Author: MedGenome

Lung cancer remains one of the leading causes of cancer-related mortality worldwide, with non-small-cell lung cancer (NSCLC) accounting for approximately 85% of all cases. ¹ Traditional approaches to diagnosis and treatment relied heavily on histopathological examination and imaging techniques. While this is important, it often provides limited insights into the molecular mechanisms driving the disease.

For this reason, traditional diagnostic methods are now being complemented, and in some cases, redefined, by genomic testing. This new-age approach analyses the genetic factors of tumours, detecting mutations that drive cancer growth. The result is a shift from one-size-fits-all treatments to highly targeted, personalised treatment.

Understanding Lung Cancer and the Role of Genomics

The emergence of genomic testing has changed lung cancer diagnosis in a revolutionary way. By analysing the genetic makeup of a patient’s tumour, clinicians can identify specific mutations and molecular alterations that influence disease progression and response to treatment.

Genomic testing allows for the detection of mutations in key oncogenes and tumour suppressor genes, such as EGFR, ALK, KRAS, ROS1, and TP53. ² This molecular profiling is essential for guiding personalised treatment strategies, including targeted therapies and immunotherapies, which have demonstrated improved survival rates and quality of life for patients.

Genomic testing does not just detect cancer. It reveals the specific genetic changes driving it and helps doctors design precision treatments tailored to each person’s unique cancer biology. ³

The Evolution of Lung Cancer Diagnosis

Historically, lung cancer diagnosis depended on a combination of chest X-rays, CT scans, bronchoscopy, and tissue biopsies. While these methods provided essential diagnostic confirmation, they lacked the ability to detect molecular changes critical to understanding cancer behaviour. The limitations of purely morphological diagnosis became increasingly evident as survival rates remained low despite advances in surgical techniques and chemotherapy.

The integration of genomic and proteomic profiling into diagnostic protocols represents a pivotal advancement. Studies have demonstrated that tumour tissues harboured distinct genetic signatures associated with disease progression and treatment response. Genomic testing can now identify mutations from a variety of sample sources, including blood (liquid biopsies) and sputum, offering less invasive diagnostic options ⁴

This evolution has shifted the focus from merely detecting the presence of cancer to understanding its molecular identity, enabling clinicians to target specific pathways and mechanisms that drive tumour growth.

Benefits of Genomic Testing in Lung Cancer

The advantages of genomic testing in lung cancer are multifaceted:

1. Personalised Treatment Plans: Molecular profiling enables oncologists to match patients with therapies designed to target specific mutations. For instance, patients with EGFR mutations benefit from tyrosine kinase inhibitors (TKIs), while ALK-positive cases respond to ALK inhibitors. ⁵
2. Improved Prognostic Accuracy: Genomic insights allow for more accurate prognosis by identifying high-risk molecular features that may influence the disease course.
3. Minimising Unnecessary Toxicity: Targeted therapies often present fewer systemic side effects compared to conventional chemotherapy, improving patient quality of life.
4. Enhanced Surveillance for Relapse: Genomic markers can be monitored over time through liquid biopsies, enabling early detection of recurrence or resistance mutations.

In clinical practice, genomic testing provides not only a diagnostic advantage but also a transformative approach to treatment selection, offering patients the best chance of a favourable outcome.

Challenges and the Future of Genomic Testing in Lung Cancer

While genomic testing offers opportunities for precision medicine, several challenges remain:

• Access and Cost: In many regions, genomic testing remains expensive and inaccessible to a large portion of the population.
• Turnaround Time: Delays in obtaining results can postpone treatment initiation.
• Clinical Interpretation of Variants: Not all detected genetic changes have known clinical significance, making clinical  interpretation challenging.
• Integration into Routine Care: Some healthcare systems lack the infrastructure to incorporate genomic testing seamlessly into diagnostic pathways.

MedGenome Labs is addressing these challenges head-on. As a leader in advanced genomic diagnostics, MedGenome offers comprehensive next-generation sequencing (NGS) panels tailored for lung cancer. Their testing covers a wide spectrum of actionable mutations, delivers results with industry-leading turnaround times, and includes robust bioinformatics support to assist oncologists in treatment planning.

By combining deep expertise in molecular oncology with scalable, cost-effective testing solutions, MedGenome is making precision oncology accessible to more patients. Looking ahead, research is focusing on expanding the range of actionable genetic targets, integrating multi-omics approaches (combining genomics, proteomics, and metabolomics), and improving bioinformatics pipelines for faster and more accurate interpretation.

As sequencing costs decline and technology becomes more widespread, genomic testing will likely become a standard component of lung cancer diagnosis and management.

The Process of Genomic Testing in Lung Cancer

The journey of genomic testing in lung cancer follows a structured sequence to ensure accuracy and clinical relevance:

This systematic approach ensures patients receive comprehensive, actionable results supported by expert guidance.

Conclusion

The integration of genomic testing into lung cancer diagnosis represents a fundamental shift from one-size-fits-all treatment to precision oncology. By revealing the genetic underpinnings of a patient’s cancer, clinicians can select therapies that are more effective, less toxic, and tailored to the individual’s disease biology.

In India, MedGenome Lab’s Molecular Testing for Lung Cancer is helping make this shift a reality. Its advanced panels detect a wide spectrum of clinically actionable mutations, including EGFR, ALK, ROS1, KRAS, and MET, enabling oncologists to match patients with targeted therapies or clinical trials from the outset. With rapid turnaround times, high sensitivity, and comprehensive reporting, MedGenome is bridging the gap between cutting-edge science and everyday clinical practice.

While challenges such as cost, accessibility, and variant interpretation remain, ongoing advances in technology and research are steadily addressing these barriers. In the coming years, genomic testing is poised to become not just an optional tool but an essential standard of care for lung cancer patients.

FAQ

What role do genetic mutations play in lung cancer diagnosis and treatment?

Genetic mutations are critical in lung cancer diagnosis and treatment because they reveal the molecular drivers of the disease. Identifying mutations through genetic testing for lung cancer allows oncologists to select targeted therapies, improving treatment outcomes and reducing unnecessary side effects.

How does genomic testing differ from traditional diagnostic approaches in lung cancer?

Traditional lung cancer diagnostics rely mainly on imaging and histopathology, which confirm cancer type but not its molecular profile. Genetic testing for lung cancer analyses tumour DNA to detect actionable mutations, enabling precision medicine and personalised treatment strategies that standard tests cannot provide.

Is genomic testing widely accessible to all lung cancer patients?

While genetic testing for lung cancer is becoming more common, access remains uneven due to cost, limited infrastructure, and lack of awareness in some regions. However, advances by providers and falling costs are steadily improving availability worldwide.

References:

1. Verma, S. K., Pandey, M., Khare, R., & Singh, D. (2024). A review on non-small cell lung cancer. Vacunas, 25(2), 239–253.
   https://www.sciencedirect.com/science/article/abs/pii/S157698872300105X
2. Matsumura, Y., Owada-Ozaki, Y., & Suzuki, H. (2018). Significance of testing for TP53 gene mutations in lung adenocarcinoma using targeted gene sequencing. Journal of Thoracic Disease, 10(S33), S4147–S4150. https://doi.org/10.21037/jtd.2018.10.66
3. An overview of lung cancer genomics and proteomics. Am J Respir Cell Mol Biol.
   https://www.atsjournals.org/doi/full/10.1165/rcmb.F290
4. The role of genomics and proteomics in lung cancer early detection and treatment. https://pmc.ncbi.nlm.nih.gov/articles/PMC9600051/.
5. Bouchard, N., & Daaboul, N. (2025). Lung cancer: targeted therapy in 2025. Current Oncology, 32(3), 146.
   https://pmc.ncbi.nlm.nih.gov/articles/PMC11941068/

Introduction

Ovarian cancer is a severe disease that often goes undetected until its later stages, making early awareness crucial. Many of its symptoms can be subtle or mistaken for common digestive or menstrual issues, leading to delays in diagnosis. However, recognising the early signs of ovarian cancer can significantly help in improving the chances of early diagnosis and effective treatment ¹, ². This blog looks to shed light on the symptoms that should not be ignored and to emphasise the importance of early detection.

Subtle Signs of Ovarian Cancer

Ovarian cancer symptoms often go unnoticed until the disease has progressed. Here are some of the most common signs:

1. Changes in Appetite

A sudden loss of appetite or feeling full quickly, even when eating small meals, can be an early indicator of ovarian cancer ³, ⁴.

2. Bloating

Persistent bloating and abdominal swelling could be warning signs of ovarian cancer. Many women might dismiss these as digestive issues, but long-term bloating warrants medical attention ³, ⁴.

3. Urgent or Frequent Urination and Bowel changes

Experiencing an increased urge to urinate and bowel changes such as constipation or diarrhoea might indicate ovarian cancer ³, ⁴.

4. Abnormal Bleeding

Unusual vaginal discharge or bleeding, particularly if it happens outside your normal menstrual cycle or after menopause, can also be an indicator of ovarian cancer ³, ⁴.

5. Discomfort or Pain in the Pelvis

Pain or pressure in the pelvis, abdomen and/or back can be an early sign of ovarian cancer. If this pain is persistent, medical evaluation is necessary ³, ⁴.

6. Low Energy for No Explained Reason

Unexplained fatigue, a general feeling of weakness, or low energy levels over a prolonged period may be a symptom of ovarian cancer ¹, ⁵.

If these symptoms persist for more than a few weeks, it is necessary to consult a healthcare provider ³, ⁴, ⁵.

Risk Factors for Developing Ovarian Cancer

While the exact reason for ovarian cancer remains unknown, certain factors may increase a person’s likelihood of developing the disease. Understanding these risk elements can help with early detection and prevention efforts.

1. Age

The ovarian cancer risk increases with age, with most cases diagnosed in women over 50, particularly after menopause ³, ⁴, ⁶.

2. Family History

A family history of uterine, ovarian, breast, or colorectal cancer may raise the risk, especially if close relatives have had these conditions ³, ⁴, ⁶.

3. Genetics

Inherited or acquired gene mutations, like BRCA1 and BRCA2, significantly increase the likelihood of developing ovarian cancer ³, ⁴, ⁶.  It’s advised to consult your Gynecologist for more details on the genetic testing for hereditary ovarian and associated diseases.

4. Hormone Therapy

Long-term use of estrogen replacement therapy alone or with progesterone after menopause has been linked to an increased risk ⁴, ⁶.  Ask your gynecologists or family Doctor about the benefits and side-effects of hormonal therapy.

5. Endometriosis

This condition, where the tissue similar to the uterine lining grows outside the uterus, has been associated with a greater risk of ovarian cancer ³, ⁴.

6. Lifestyle Factors

Smoking, obesity, overweight, and a lack of exercise or physical activity may also contribute to an increased risk of ovarian cancer ¹, ⁶.

Early Detection of Ovarian Cancer

Early diagnosis significantly improves survival rates. If a healthcare provider or your family Doctor suspects ovarian cancer, they will begin by discussing symptoms and performing a pelvic exam to check for unusual growths or enlarged organs. To confirm a diagnosis, additional tests may be recommended.

1. Imaging Tests

Various imaging techniques help visualize the ovaries and detect abnormalities, including Pelvic Ultrasound, MRI (Magnetic Resonance Imaging), CT-Scan (Computed Tomography), PET-Scan (Positron Emission Tomography) ³, ⁴.  Discuss with your Doctor to include these tests in your annual health checkups, if you are above 50 years and have experienced any one or multiple symptoms mentioned in this article.

2. Laparoscopy

It is a minimally invasive procedure. Involves a small camera being inserted through a tiny incision in the abdomen to assess and aid in removing tumours ³, ⁴.

3. Blood Tests

• CA-125 blood test: Helps measure the level of CA-125, a protein that ovarian cancer cells can produce. However, elevated CA-125 levels can also occur due to non-cancerous conditions, and some ovarian cancers may not cause a significant rise in CA-125. Therefore, this test is used alongside imaging and other diagnostic methods ³, ⁴.

4. Surgical Evaluation and Biopsy

• If imaging and blood tests suggest ovarian cancer, a biopsy may be necessary to confirm the diagnosis. This involves extracting a sample of tissue for examination under a microscope.
• If abnormal growths are detected, surgeons often remove them during the same procedure ³, ⁴.  Consult the Gynecologists or Gyneco Surgeons to understand the risks and benefits of this procedure.

5. Genetic Testing

• Genetic testing can help identify inherited mutations in specific genes that increase susceptibility to ovarian cancer, such as BRCA1 and/or BRCA2 mutations etc ³, ⁴.  For genetic counseling and genetic testing, you may contact Medgenome Laboratories in India.

A combination of these diagnostic tools ensures the most accurate assessment and helps determine the best treatment approach.

Management and Treatment Options for Ovarian Cancer

Common ovarian cancer treatment options include the use of surgery, chemotherapy, targeted therapy, hormone therapy, immunotherapy, radiation therapy and palliative care ³, ⁴.

Conclusion

Recognising the early signs of ovarian cancer can help in early diagnosis and better treatment outcomes. If you or someone you know experiences persistent symptoms, consult a healthcare provider immediately. Preventive measures such as genetic counselling and genetic testing can help assess individual risk levels. Stay informed and proactive about ovarian cancer.

​MedGenome plays a significant role in ovarian cancer testing by offering advanced genetic and molecular diagnostics. These tests help in both risk assessment for hereditary ovarian cancer and personalised treatment strategies for diagnosed patients ⁷, ⁸.  Medgenome has developed and commercially validated a “HRD (Homologous Recombination Deficiency) genomic testing” for effective personalised treatment.

FAQs

A. What should you not do if you have ovarian cancer?

As with any illness, patients must refrain from self-diagnosing, postponing medical evaluation and treatment, using over-the-counter medications without professional guidance, or relying exclusively on alternative therapies. Additionally, maintain a healthy lifestyle and adhere to your doctor’s recommendations for the best possible outcomes ⁹, ¹⁰.

B. What are the early warning signs of ovarian cancer?

The early signs of ovarian cancer include persistent bloating, abdominal pain, appetite loss, frequent urination, abnormal vaginal discharge or bleeding, and unexplained fatigue ¹, ³, ⁴, ⁵.

C. What is the most common cause of death in ovarian cancer patients?

The primary factor influencing survival is the stage at which ovarian cancer is diagnosed. The more advanced the stage of cancer, the poorer the survival rates tend to be. This is often due to treatment being less effective in later stages or because an individual’s health condition may not allow them to undergo aggressive therapy.

Age, too, plays a role in survival rates. As per the National Cancer Institute, the highest number of ovarian cancer-related deaths occurred in individuals aged between 55 to 74 years ¹¹, ¹².

D. What Happens in End/Dying Stage Ovarian Cancer?

In the final stage, patients may experience severe weakness, fatigue, loss of appetite, weight loss, reduced communication and awareness, decline in organ function, confusion and hallucinations, reduced responsiveness etc ¹³, ¹⁴.

E. What are the major symptoms of ovarian cancer?

Persistent bloating, abdominal pain and swelling, and changes in bladder/bowel habits are among the most frequently reported symptoms of early signs of ovarian cancer ¹⁵.

References:

1. What is Ovarian Cancer: Symptoms, Detection, and Treatment. (n.d.). The University of Kansas Cancer Center. https://www.kucancercenter.org/news-room/blog/2020/08/what-is-ovarian-cancer-symptoms-treatment
2. Research, C. O. T. S. O. T. S. I. O. C. (2016, April 25). Diagnosis and treatment. Ovarian Cancers – NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK367619/
3. Ovarian cancer. (2025, March 19). Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/4447-ovarian-cancer
4. Frysh, P. (2025, February 22). Ovarian cancer: symptoms, causes, treatment. WebMD. https://www.webmd.com/ovarian-cancer/ovarian-cancer-symptoms-causes-treatmen
5. Signs and symptoms of ovarian cancer. (n.d.). American Cancer Society. https://www.cancer.org/cancer/types/ovarian-cancer/detection-diagnosis-staging/signs-and-symptoms.html
6. Ovarian cancer risk factors | Risk factors for ovarian cancer. (n.d.). American Cancer Society. https://www.cancer.org/cancer/types/ovarian-cancer/causes-risks-prevention/risk-factors.html
7. Comprehensive Molecular testing for cancer | MedGenome. (2024b, October 16). MedGenome – Leading Genetics Diagnostics Lab in India – MedGenome – Leading Genetics Diagnostics Lab in India. https://diagnostics.medgenome.com/solid-tumors-test/
8. Genetic Testing for Cancer Management | PriMa | MedGenome. (2024b, August 1). MedGenome – Leading Genetics Diagnostics Lab in India – MedGenome – Leading Genetics Diagnostics Lab in India. https://diagnostics.medgenome.com/prima/
9. Carle Foundation Hospital. (n.d.). Managing your breast cancer – symptoms & treatment | Carle.org. https://carle.org/conditions/cancer-conditions/breast-cancer#:~:text=DOs%20and%20DON%E2%80%99Ts%20in%20Managing%20Breast%20Cancer%3A%201,maybe%20supplemental%20drinks.%205%20DO%20get%20enough%20fluids.
10. Hospitals, C., & Hospitals, C. (2023, August 7). Breast cancer recovery: do’s and don’ts during and after treatment. CARE Hospitals. https://www.carehospitals.com/blog-detail/breast-cancer-recovery-dos-and-donts-during-and-after-treatment/
11. Sharkey, L. (2024, November 11). What to Expect with End Stage Ovarian Cancer. Healthline. https://www.healthline.com/health/dying-from-ovarian-cancer#factors
12. Ali, A. T., Al-Ani, O., & Al-Ani, F. (2023). Epidemiology and risk factors for ovarian cancer. Menopausal Review, 22(2), 93–104. https://doi.org/10.5114/pm.2023.128661
13. What happens in end stage ovarian cancer? Signs & care. (2022, April 1). eMedicineHealth. https://www.emedicinehealth.com/what_happens_in_end_stage_ovarian_cancer/article_em.htm
14. Climan, A., Goodman, H., & MyOvarianCancerTeam. (2022, February 22). End-Stage ovarian cancer: expectations and emotional care. MyOvarianCancerTeam. https://www.myovariancancerteam.com/resources/end-stage-ovarian-cancer-expectations-and-emotional-care
15. DeMarco, C. (2022, November 2). ‘My first symptoms of ovarian cancer’: Signs to look for and when to see a doctor. MD Anderson Cancer Center. https://www.mdanderson.org/cancerwise/my-first-symptoms-of-ovarian-cancer—signs-to-look-for-and-when-to-see-a-doctor.h00-159544479.html

Hereditary cancer testing is a type of genetic screening designed to identify inherited genetic mutations (faulty copies of genes or variants) that may increase an individual’s risk of developing certain types of cancers. These mutations, which are passed down through families, should be detected as early as possible.  Early detection of cancer causing genes (Oncogenes) helps in cancer prevention and means of adopting early treatment strategies. Understanding genetic predisposition through genetic cancer screening enables personalised health planning and empowers proactive decision-making. ^{1 2}

Hereditary Cancer Testing and Its Importance

Hereditary cancer testing focuses on identifying mutations in cancer causing genes, such as BRCA1, BRCA2, PIK3CA or TP53, which are associated with elevated cancer risks. Approximately 5-10% of all cancers are hereditary, meaning they result from inherited mutations from one generation to another.

The importance of hereditary cancer testing lies in its ability to:

• Detect cancer risk before symptoms appear.
• Inform personalised screening and prevention strategies.
• Enable early diagnosis, which can improve survival rates.
• Offer insights for family members (blood relatives or 1st degree relatives, namely, brothers, sisters, father, mother, daughters, sons) who may also carry genetic risks. ^{1 2 3 10}

Importance of Family History of Cancer in Determining Genetic Risk

A family history of cancer is a critical factor in assessing genetic risk. Patterns of early-onset cancers, multiple family members with cancer, or rare cancer types in the family may indicate an inherited genetic mutation.

Clinicians use family history to identify individuals who could benefit from genetic cancer screening. For example, families with a history of breast, ovarian, or colorectal cancer may be candidates for testing specific genetic mutations like those in BRCA1 and BRCA2 or MLH1 genes.  ^{4 5}

Process of Hereditary Cancer Testing

The process involves several steps:

• Pre-Test Genetic Counseling: Patients meet with a genetic counsellor to discuss their family history of cancer, the scope of the test, and the potential implications of the results.
• Sample Collection: Testing typically requires a blood or saliva sample, which is analysed in specialised laboratories using advanced techniques like next-generation sequencing.
• Result Interpretation: Genetic counsellors help interpret the results, which could indicate the following:

1. Positive: A pathogenic mutation is present.
2. Negative: No mutation is identified.
3. Variants of uncertain significance (VUS): A genetic change with unclear clinical relevance.

• Post-Test Counseling: Recommendations for screening, lifestyle changes, or preventive measures are provided based on the findings. ^{2 6}

Benefits of Genetic Cancer Screening

Genetic cancer screening offers numerous advantages:

• Risk Assessment: Identifies individuals at high risk of developing cancer.
• Early detection: Helps to increase chances of a successful outcome.

• Personalised Prevention: Enables tailored surveillance, such as earlier or more frequent screenings.
• Family Planning: Assists in reproductive decisions and informs relatives of potential risks.
• Targeted Therapies: Patients with specific genetic mutations, such as BRCA-related cancers, may benefit from targeted treatments like PARP inhibitors. ^{1 6 7}

Who Should Consider Hereditary Cancer Testing?

Individuals should consider hereditary cancer testing if they:

• Have a strong family history of cancer, especially breast, ovarian, or colorectal cancer.
• They were diagnosed with cancer at an unusually young age.
• Have rare cancers, such as male breast cancer, brain cancers, blood cancers etc.
• Belong to populations with higher genetic predispositions, such as Ashkenazi Jewish ancestry.

Healthcare providers often recommend testing alongside Genetic Counseling, ensuring patients fully understand the genetic test results and their implications to their family members. ^{1 2}

Conclusion

Hereditary cancer testing plays a vital role in identifying genetic risks associated with cancer, empowering individuals to make informed health decisions. By evaluating family history of cancer and undergoing genetic cancer screening, individuals can adopt preventive measures, opt for targeted treatments, and improve overall outcomes.

For those at risk, Genetic Testing and Cancer Genetic Counseling offer invaluable support in navigating these complex decisions.

MedGenome stands out for its robust hereditary cancer testing and genetic cancer screening solutions. By combining cutting-edge technology, expert Genetic Counseling, and a patient-centred approach, MedGenome helps individuals understand and manage their cancer risks effectively.

Why choose MedGenome for Hereditary Cancer Testing?

• State-of-the-Art Technology: MedGenome employs next-generation sequencing (NGS) to analyse a wide range of cancer-associated genes with high accuracy and sensitivity. This ensures precise detection of mutations linked to cancers such as breast, ovarian, colorectal, and pancreatic cancers.
• Comprehensive Genetic Panels: Their hereditary cancer test covers key genes like BRCA1, BRCA2, MLH1, and TP53, among others. This broad scope ensures no critical genetic risks are overlooked.
• Integrated Genetic Counseling: MedGenome provides Genetic Counseling services alongside testing. Patients receive professional guidance to understand their genetic test results, assess implications, and take preventive or therapeutic actions.
• Focus on Family Health: MedGenome emphasises assessing the family history of cancer, offering tailored testing options for families with a significant cancer burden.
• Accessibility and Affordability: MedGenome is committed to making genetic cancer screening accessible to a diverse population by offering cost-effective solutions and streamlined processes. ^{8 9}

References:

1 Professional, C. C. M. (2024b, November 12). Genetic Testing for Cancer Risk. Cleveland Clinic. https://my.clevelandclinic.org/health/diagnostics/23972-genetic-testing-cancer-risk

2 Genetic Testing Fact Sheet. (2024, April 18). Cancer.gov. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet

3 Cancer Genetics Overview (PDQ®). (2024, August 23). Cancer.gov. https://www.cancer.gov/publications/pdq/information-summaries/genetics/overview-hp-pdq

4 Singh, D. N., Daripelli, S., Bushara, M. O. E., Polevoy, G. G., & Prasanna, M. (2023b). Genetic Testing for Successive Cancer Treatment. Cureus. https://doi.org/10.7759/cureus.49889

5 What Is Genetic Testing? Understanding Genetic Testing for Cancer. (n.d.). American Cancer Society. https://www.cancer.org/cancer/risk-prevention/genetics/genetic-testing-for-cancer-risk/understanding-genetic-testing-for-cancer.html

6 News-Medical. (2024, March 26). Understanding genetic testing for hereditary cancer diagnosis. https://www.news-medical.net/whitepaper/20240326/Understanding-genetic-testing-for-hereditary-cancer-diagnosis.aspx

7 The Pros & Cons of Genetic Testing for Cancer. (n.d.). https://www.virginiacancer.com/genetic-testing/advantages-disadvantages-of-genetic-testing/

8 BRCA Test (BCRA1 & BCRA2) Hereditary Breast & Ovarian Cancer. (2024, October 16). MedGenome – Leading Genetics Diagnostics Lab in India – MedGenome – Leading Genetics Diagnostics Lab in India. https://diagnostics.medgenome.com/hereditary-cancer/

9 Free Pre & Post Test Genetic Counselling | MedGenome. (2023, March 23). MedGenome – Leading Genetics Diagnostics Lab in India – MedGenome – Leading Genetics Diagnostics Lab in India. https://diagnostics.medgenome.com/medgenome-genetic-counseling/#form

10 Frequently Asked Questions about Hereditary Cancers. (n.d.). Memorial Sloan Kettering Cancer Center. https://www.mskcc.org/cancer-care/risk-assessment-screening/genetic-counseling-and-testing/frequently-asked-questions-about-hereditary#:~:text=In%20general%2C%20only%20about%205%20to%2010%20percent,cancer%20being%20hereditary%20can%20vary%20by%20tumor%20type.

Genetic Testing has emerged as a vital tool in modern healthcare, significantly enhancing the well-being of both expectant mothers and their newborns. By enabling early detection and management of potential health issues, genetic testing is reshaping the landscape of maternal and newborn health ^1,2. This article delves into the advancements, benefits, and ethical considerations of genetic testing.

Understanding Genetic Testing in Maternal and Newborn Health

Genetic testing encompasses a variety of techniques aimed at analysing DNA to identify changes or mutations that may lead to health concerns. In the context of pregnancy and neonatal care, these tests are pivotal for:

• Identifying Genetic Disorders: Detecting conditions that could affect the mother or child ^1,2.
• Guiding Treatment Plans: Informing healthcare strategies tailored to individual genetic profiles ^1,2.
• Facilitating Reproductive Decisions: Helping parents make informed decisions about future pregnancies ^1,2.

Types of genetic testing

Genetic testing is essential for assessing the risk of developing certain diseases, as well as for screening and, in some cases, guiding medical treatment ⁴. Various types of genetic tests are performed depending on the specific purpose or need:

Carrier testing: A form of genetic screening that helps determine whether an asymptomatic individual carries a gene variant for a recessive condition like,, sickle cell anemia, or cystic fibrosis. This type of testing is especially recommended for those with a family history of genetic disorders or individuals from ethnic backgrounds that have a higher prevalence of certain conditions. When both partners are tested, the results can offer valuable insight into the likelihood of their child inheriting a genetic disorder ^1,3,4.

Prenatal screening: Used to identify genetic or chromosomal abnormalities in a developing fetus. Couples who are at a higher risk of having a child with such conditions may be offered the following types of testing: ^1,3,4.

1. NIPT (Non-Invasive Prenatal Testing): A blood test is done after 10 weeks of pregnancy that analyses small fragments of fetal DNA to detect common chromosomal abnormalities ³.
2. Maternal Serum Screening: Blood tests that assess protein levels to estimate the risk of chromosomal issues. Types include sequential, quad, and first-trimester screening, typically done after 11 weeks of pregnancy ³.

Newborn screening: Involves testing for various genetic and metabolic abnormalities that can lead to specific health conditions. This type of genetic screening is crucial, as early detection of disorders like sickle cell disease, congenital hypothyroidism, or phenylketonuria (PKU) allows for immediate care and treatment to prevent serious complications ^1,4.

Use Of Genetic Testing In Transforming Maternal And Newborn Health

Early Detection and Prevention: Genetic testing can identify risks for certain diseases before symptoms appear, allowing for early monitoring, lifestyle changes, or preventive treatments ^1,4.

Increased Accuracy of Diagnosis: It helps confirm or rule out a suspected genetic disorder conclusively ^1,4.

Informed Reproductive Decisions: Carrier testing can show if you or your partner carry genes for certain inherited conditions, helping inform reproductive decisions ^1,4.

Peace of Mind: For some, knowing they do not carry a genetic mutation can relieve anxiety about inherited diseases ⁵.

Early Intervention in Newborns: Newborn genetic screening allows for early treatment of disorders that could cause severe problems if not detected immediately ^1,4.

Advances in Genetic Testing

Technological Advancements in Genetic Testing

The evolution of DNA sequencing technologies has been pivotal in the widespread adoption of genetic testing. The development of next-generation sequencing (NGS) has enabled rapid and comprehensive analysis of the human genome, making it feasible to conduct broad genetic tests within clinically useful timeframes. NGS can be utilized for exome sequencing, whole-genome sequencing, or targeted gene panels that include anywhere from a few dozen to several hundred specific genes ⁷.

Role of Artificial Intelligence:

Artificial intelligence (AI) is emerging as a powerful tool in genetic testing and genomic medicine, particularly in the analysis of complex genetic data. AI algorithms can process vast datasets with a degree of accuracy and efficiency that surpasses traditional methods, enabling earlier detection of diseases, informing personalized treatment plans, and providing insights into disease prognosis ⁶.

Ethical Considerations, Challenges and Limitations

While the benefits of genetic testing are well-known, they come with ethical and practical challenges:

Data Privacy: Ensuring the confidentiality of an individual’s personal information ⁸.

Psychological Impact: Addressing the emotional implications of test results on families. Individuals may experience emotions such as depression, guilt, anger or anxiety in response to their test results ^5,8.

Access and Equity: Making genetic testing accessible and equally available to the people. For individuals without adequate financial resources or insurance, the high cost can be a major barrier, limiting access to potentially life-saving information and personalized care ^5,8.

Limitations: Genetic testing has its boundaries and cannot provide complete information about inherited diseases. For instance, a positive result does not necessarily mean you will develop the condition, and it is often difficult to determine how severe the symptoms might be if the disease does occur ⁸. Test results can sometimes yield false negatives, meaning they suggest a lower risk or absence of a genetic condition, even though the individual is actually affected by it ¹¹.

Healthcare providers must navigate these challenges carefully, providing comprehensive counselling to support informed decision-making ⁸.

Conclusion

Genetic testing is undeniably transforming maternal and newborn health by facilitating early detection, personalized treatment, and informed family planning. As technology advances, it is important to address the associated ethical considerations and ensure equitable access to these life-saving tools. Ongoing research and strategic application will ensure that genetic testing continues to play a vital role in preventive healthcare, protecting the well-being of both mothers and their children.

MedGenome has significantly advanced maternal and newborn health through its comprehensive genetic testing services, facilitating early detection and management of potential health concerns. By integrating advanced genetic testing solutions into maternal and newborn care, MedGenome empowers healthcare providers and families with essential information, promoting healthier outcomes for mothers and their children ¹⁰.

References:

1. Alliance, G. (2009, July 8). GENETIC TESTING. Understanding Genetics – NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK115571/
2. Fallabel, C. (2022, September 29). Genetic testing: what you should know. Healthline. https://www.healthline.com/health/genetic-testing#during-pregnancy
3. Professional, C. C. M. (2025b, March 19). Prenatal genetic testing. Cleveland Clinic. https://my.clevelandclinic.org/health/diagnostics/24136-pregnancy-genetic-testing
4. Genetic testing – Mayo Clinic. (n.d.-b). https://www.mayoclinic.org/tests-procedures/genetic-testing/about/pac-20384827
5. Nhgri. (2019, March 9). Genetic testing FAQ. Genome.gov. https://www.genome.gov/FAQ/Genetic-Testing
6. O’Connor, O., & McVeigh, T. P. (2025). Increasing use of artificial intelligence in genomic medicine for cancer care- the promise and potential pitfalls. Nature. https://doi.org/10.1038/s44276-025-00135-4
7. Pattan, V., Kashyap, R., Bansal, V., Candula, N., Koritala, T., & Surani, S. (2021). Genomics in medicine: A new era in medicine. World Journal of Methodology, 11(5), 231–242. https://doi.org/10.5662/wjm.v11.i5.231
8. Andrews, L. B., Fullarton, J. E., Holtzman, N. A., & Motulsky, A. G. (1994). Social, legal, and ethical implications of genetic testing. Assessing Genetic Risks – NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK236044/
9. World Health Day 2025: Healthy beginnings, hopeful futures. (2025, April 7). https://www.who.int/news-room/events/detail/2025/04/07/default-calendar/world-health-day-2025-healthy-beginnings-hopeful-futures
10. page title. (2025b, March 14). MedGenome – Leading Genetics Diagnostics Lab in India – MedGenome – Leading Genetics Diagnostics Lab in India. https://diagnostics.medgenome.com/
11. What do the results of genetic tests mean?: MedlinePlus Genetics. (n.d.). https://medlineplus.gov/genetics/understanding/testing/interpretingresults/

Tuberculosis (TB) remains one of the world’s deadliest infectious diseases, affecting millions every year. While standard treatments have saved lives, the rise of drug-resistant TB threatens global progress. Now, more than ever, rapid and precise diagnosis is essential.

Defeating Drug-Resistant TB Together

Multidrug-resistant TB (MDR-TB) and extensively drug-resistant TB (XDR-TB) pose serious public health threats. Traditional diagnostic methods take weeks, delaying treatment and increasing transmission risks. The need for faster, more accurate solutions has never been greater.

SPIT SEQ: Revolutionizing TB Diagnosis

SPIT SEQ, an advanced Next-Generation Sequencing (NGS)-based Whole Genome Sequencing test, detects drug-resistant TB with unmatched accuracy. Unlike conventional methods, it analyses the entire Mycobacterium tuberculosis genome directly from clinical samples, providing rapid and comprehensive results.

Why SPIT SEQ is a Game-Changer

Rapid Results – Delivers a detailed drug-resistance profile in record time.
Comprehensive Detection – Identifies resistance to multiple anti-TB drugs.
Direct Sample Testing – Eliminates the need for lengthy culture-based methods.
Actionable Insights – Helps clinicians develop the most effective treatment strategies.

This World TB Day, we stand united in the fight against TB. SPIT SEQ is transforming diagnostics, ensuring timely interventions and improved treatment outcomes.

Introduction

As we celebrate International Women’s Day, it is crucial to highlight the importance of women’s health and the advancements that empower them to take charge of their well-being. One such advancement is genetic testing, a groundbreaking tool for early detection of various health conditions. By identifying genetic predispositions, women can make informed decisions about their healthcare, leading to proactive management and improved health outcomes. This article dives into the significance of genetic testing, its benefits, and its role in empowering women worldwide.

Understanding Genetic Testing for Women’s Health

Genetic testing is a medical test that analyses DNA to identify mutations or variations associated with certain diseases. This process involves collecting a biological sample – such as hair, blood, saliva, or tissue – which is then analysed in a laboratory to detect genetic markers linked to health conditions ¹, ², ³.

There are several types of genetic tests relevant to women’s health, including:

• Cancer Genetic Testing: Identifies mutations in the genes that play an important role in causing or preventing cancer ¹, ², ³.
• Carrier Screening: Determines whether an individual carries genes for inherited conditions like cystic fibrosis or sickle cell anemia ¹, ².
• Prenatal Testing: Assesses the genetic health of a fetus, helping expectant mothers prepare for potential health challenges ¹, ².
• Predictive/predispositional/presymptomatic genetic testing: Can help identify genetic mutations that might increase the likelihood of developing certain conditions later in life ¹, ².

The Importance of Genetic Testing in Early Detection

Genetic testing plays a vital role in the early detection of diseases, allowing individuals to identify potential health risks before symptoms appear. By analysing genetic mutations linked to specific conditions, such as cancer or hereditary disorders, these tests provide valuable insights into a person’s predisposition to certain illnesses.

Early detection through genetic testing enables proactive healthcare measures, including lifestyle modifications, preventive treatments, and regular monitoring, which can significantly improve outcomes. However, as genetic testing is not always definitive, consulting a healthcare expert is essential to understand the outcomes and make informed decisions about future health management ⁴, ⁵.

Latest Trends and Advances

Recent technological advancements have made genetic testing more accessible, accurate, and affordable. Some key developments include:

• Next-Generation Sequencing (NGS): Enhances the speed and precision of genetic analysis ⁶.
• Non-Invasive Testing: Liquid biopsies and cell-free DNA testing allow for early disease detection without invasive procedures ⁷.
• Artificial Intelligence (AI) Integration: AI-driven genetic analysis improves the interpretation of complex genetic data, enabling more precise risk assessments ⁸.

Additionally, personalised medicine based on genetic profiles is transforming healthcare, offering women targeted therapies ⁶.

Real-World Impact and Success Stories

Genetic testing has already improved countless lives. Consider the following examples:

• Angelina Jolie’s Preventive Action: After discovering her BRCA mutation, the actress opted for preventive mastectomy, inspiring many women to undergo genetic testing ⁹.
• Clinical Studies: Research carried out by Metcalfe et al. (2024) found that for women with a BRCA1 or BRCA2 pathogenic variant, undergoing risk-reducing mastectomy (RRM) significantly lowers the likelihood of developing breast cancer and reduces the chances of dying from the disease ¹⁰.

These real-world cases reinforce the value of genetic testing as a tool for proactive healthcare management.

What to Expect from the Genetic Testing Process?

Understanding the testing process helps alleviate concerns and ensures informed decision-making. The typical genetic testing journey includes:

1. Consultation with an Expert Genetic Counselor: Discuss family history, risks, and test options ¹, ², ¹¹.
2. Sample Collection: A simple hair, blood, saliva, or tissue sample is taken ¹, ², ¹¹.
3. Laboratory Analysis: Experts examine the sample for genetic variations 1, ², ¹¹.
4. Results Interpretation: A healthcare provider explains the findings and suggests possible next steps ¹, ², ¹¹.
5. Post-Test Counseling: Guidance on preventive measures, treatment options, and emotional support ¹, ², ¹¹.

Empowering Women’s Health Through Genetic Testing

International Women’s Day is an ideal occasion to emphasise the role of genetic testing in women’s health. Genetic insights empower women to:

• Make informed healthcare choices
• Take preventive actions against hereditary diseases
• Advocate for broader access to genetic testing

Healthcare brands and organisations can support this movement by promoting education, providing affordable testing options, and fostering discussions around women’s health. MedGenome, a trusted leader in genetic testing, remains committed to advancing these efforts.

Conclusion

Genetic testing is a transformative tool that offers women the ability to detect potential health risks early, improve outcomes, and take charge of their well-being. As we observe International Women’s Day, let us advocate for widespread awareness and accessibility of genetic testing. By embracing this technology, women can pave the way for a healthier future – one informed decision at a time.

MedGenome, a leader in genetic diagnostics, contributes by providing cutting-edge genetic testing services that help women make informed healthcare decisions. Through advanced genomic solutions, MedGenome supports early disease detection, personalised treatment plans, and proactive healthcare management. By raising awareness and improving access to genetic testing, MedGenome empowers women to take charge of their health, aligning with the spirit of International Women’s Day.

References:

1. Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. APPENDIX G, GENETIC TESTING. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115571/
2. Professional, C. C. M. (2025, February 7). DNA Test & Genetic Testing. Cleveland Clinic. https://my.clevelandclinic.org/health/diagnostics/23065-dna-test–genetic-testing
3. Genetic testing fact sheet. (2024, April 18). Cancer.gov. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet
4. Genetic Alliance; District of Columbia Department of Health. Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2010 Feb 17. Chapter 2, Diagnosis of a Genetic Disease. Available from: https://www.ncbi.nlm.nih.gov/books/NBK132142/
5. What are the risks and limitations of genetic testing?: MedlinePlus Genetics. (n.d.). https://medlineplus.gov/genetics/understanding/testing/riskslimitations/
6. Satam, H., Joshi, K., Mangrolia, U., Waghoo, S., Zaidi, G., Rawool, S., Thakare, R. P., Banday, S., Mishra, A. K., Das, G., & Malonia, S. K. (2023). Next-Generation Sequencing Technology: Current Trends and Advancements. Biology, 12(7), 997. https://doi.org/10.3390/biology12070997
7. Horton, R. H., & Lucassen, A. M. (2019). Recent developments in genetic/genomic medicine. Clinical science (London, England: 1979), 133(5), 697–708. https://doi.org/10.1042/CS20180436
8. Solomon B. D. (2023). The future of commercial genetic testing. Current opinion in pediatrics, 35(6), 615–619. https://doi.org/10.1097/MOP.0000000000001260
9. Borzekowski, D. L., Guan, Y., Smith, K. C., Erby, L. H., & Roter, D. L. (2013). The Angelina effect: immediate reach, grasp, and impact of going public. Genetics in Medicine, 16(7), 516–521. https://doi.org/10.1038/gim.2013.181
10. Metcalfe, K., Huzarski, T., Gronwald, J. et al. Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis. Br J Cancer 130, 269–274 (2024). https://doi.org/10.1038/s41416-023-02503-8
11. Genetic testing – Mayo Clinic. (n.d.). https://www.mayoclinic.org/tests-procedures/genetic-testing/about/pac-20384827
12. page title. (2025, February 25). MedGenome – Leading Genetics Diagnostics Lab in India – MedGenome – Leading Genetics Diagnostics Lab in India. https://diagnostics.medgenome.com/

Febrile neutropenia is a serious complication in cancer patients, especially those undergoing chemotherapy. It happens when a patient has a fever from an infection due to low levels of neutrophils – the white blood cells that help fight infections. Detecting the pathogens responsible for infections in febrile neutropenic patients is crucial for timely treatment and better outcomes. The febrile neutropenia panel has brought advanced pathogen detection techniques to transform patient care by improving accuracy and speed.

Understanding Febrile Neutropenia Panel

A febrile neutropenia panel is a Multiplex RT-PCR based comprehensive test to identify pathogens in immunocompromised patients. These panels are specifically designed to detect bacteria, viruses, and fungi that may cause febrile neutropenia in cancer patients.

In the past, febrile neutropenia diagnosis was a challenge due to limited pathogen detection techniques. Traditional methods often took days to yield results, which delayed appropriate treatment. With the introduction of febrile neutropenia panels, it has become possible to identify infections more quickly and accurately, allowing healthcare providers to initiate targeted treatment faster and ensure better outcomes.

Advanced Pathogen Detection in Febrile Neutropenia

Advanced pathogen detection is the cornerstone of managing febrile neutropenia in cancer patients. Unlike conventional testing, modern febrile neutropenia panels use molecular methods, such as PCR (Polymerase Chain Reaction), which can detect even the most minor amounts of pathogen DNA or RNA in the blood. This level of precision is essential for identifying infections at an early stage, even when symptoms may not be fully developed.

Since these panels can detect multiple pathogens simultaneously, they have greatly improved the efficiency of febrile neutropenia diagnosis. Early identification of the infectious agent enables prompt, targeted therapy, which is critical for the survival of cancer patients with compromised immune systems.

The Clinical Importance of Early Pathogen Detection

Early detection of pathogens is crucial in febrile neutropenia management because delays in identifying and treating infections can lead to life-threatening sepsis. By providing rapid and reliable results, febrile neutropenia panels help clinicians decide on the appropriate antibiotic or antiviral therapy without unnecessary delays.

Prompt treatment not only saves lives but also minimises the need for broad-spectrum antibiotics, which can contribute to antibiotic resistance. Therefore, early and accurate febrile neutropenia diagnosis is critical to improving patient outcomes and optimising healthcare resources.

Impact of Advanced Febrile Neutropenia Panels on Patient Care

The introduction of advanced febrile neutropenia panels has significantly impacted how febrile neutropenia is managed in clinical settings. The benefits include:

• Faster Diagnosis: Reduced time to identify pathogens allows for quicker initiation of treatment.
• Targeted Treatment: Instead of using empirical therapy, clinicians can prescribe treatments tailored to the specific pathogen.
• Reduced Hospital Stays: Early and effective treatment helps in faster recovery, reducing the need for prolonged hospital stays.
• Better Prognosis: Patients who receive early and appropriate care are more likely to recover from infections without severe complications.

Advancements in Pathogen Detection Technology

Pathogen detection has witnessed several technological advancements in recent years, leading to more reliable and faster results. Modern febrile neutropenia panels now utilise techniques such as next-generation sequencing (NGS), a genetic testing method to detect a broader range of pathogens with higher accuracy. By incorporating the latest advancements in pathogen detection, healthcare providers can offer better diagnostic accuracy. With accurate early diagnosis, they can create effective treatment strategies for cancer patients suffering from febrile neutropenia. These technologies are not only transforming febrile neutropenia management but are also setting new standards for infection detection in immunocompromised patients.

Role of the Febrile Neutropenia Panel in Immunocompromised Patients

For patients undergoing chemotherapy or those with weakened immune systems, the febrile neutropenia panel is a crucial tool for infection management. Since these patients are more susceptible to developing life-threatening infections, timely identifying pathogens is essential for effective treatment. The febrile neutropenia panel has become integral to febrile neutropenia management, helping oncologists and infectious disease specialists provide optimal care at the earliest.

Conclusion

The febrile neutropenia panel has significantly improved infection management in cancer patients. Its advanced pathogen detection technology ensures quicker diagnosis and targeted treatment, reducing the risk of severe complications and enhancing patient care. As technology advances, these screening panels will continue to be vital in safeguarding the health of immunocompromised individuals.

To learn more about advanced febrile neutropenia panels, visit MedGenome’s comprehensive diagnostic solutions. Ensure timely and accurate pathogen detection for better health outcomes—explore our genetic counselling and testing options today.

Pregnancy is an exciting yet critical time in a woman’s life. Expecting parents often find themselves overwhelmed with decisions to ensure the health and well-being of their baby. Among these decisions is whether to undergo genetic testing or not. With advancements in prenatal testing, two major genetic tests have become widely discussed: Carrier Screening and Non-Invasive Prenatal Testing (NIPT). Both tests offer valuable insights into the health of the baby, but each serves a unique purpose. ¹

Understanding Genetic Testing During Pregnancy

Genetic testing during pregnancy helps detect potential genetic disorders in the fetus or identify whether the mother or father is the carrier of genetic conditions that could be passed to their child. Prenatal genetic testing can help in making informed decisions about the pregnancy and the health of the baby. There are several types of genetic tests available, including carrier screening and NIPT. The choice of test depends on factors such as family history, ethnicity, and personal preferences. ^{1 2}

What is Carrier Screening?

Carrier screening is a genetic test that is performed before or during pregnancy to determine whether one or both parents carry a gene for a recessive inherited condition. Some genetic conditions are caused by mutations in a single gene, and if both parents are carriers, there is a 25% chance that their child will inherit two copies of the mutated gene (one from each parent) and develop the condition. Common conditions tested in carrier screening include sickle cell anemia, cystic fibrosis, and Tay-Sachs disease, to name a few. ³

Carrier screening is often recommended for couples with a family history of genetic disorders or those belonging to ethnic groups with a higher risk of certain genetic conditions. The test is performed with a simple blood sample or cheek swab and can be done at any time before or during pregnancy. ³

What is NIPT Testing?

Non-Invasive Prenatal Testing (NIPT) is a blood test that analyses small fragments of fetal DNA (cfDNA) circulating in the mother’s blood. It screens for specific chromosomal conditions in the fetus, such as Down syndrome (trisomy 21), trisomy 18, and trisomy 13. NIPT is non-invasive, which means it carries no risk of miscarriage, unlike invasive tests such as amniocentesis or CVS. ^{2 4 5}

NIPT is a highly accurate screening test that can be done as early as the 10th week of pregnancy. While NIPT provides valuable information about chromosomal abnormalities, it does not currently test for other types of genetic disorders, such as those screened for by carrier screening. The main advantage of NIPT is its ability to detect conditions that affect the chromosomes early in pregnancy with a high degree of accuracy. ⁶

Carrier Screening vs NIPT – Key Differences

Can You Do Both Carrier Screening and NIPT?

Yes, you can do both carrier screening and NIPT. In fact, many couples choose to undergo both tests to get a comprehensive understanding of their genetic risks.

• Carrier screening provides information about inherited genetic disorders, especially if both parents are carriers of a recessive gene.
• NIPT test helps detect potential chromosomal abnormalities in the fetus.

These tests complement each other, providing a more complete picture of both the parents’ genetic makeup and the fetus’s health. In some cases, if a carrier screening reveals that one or both parents are carriers of a genetic disorder, NIPT can be used to evaluate whether the fetus has any chromosomal abnormalities. ²

Genetic Counseling in Prenatal Testing:

Whether you opt for carrier screening or NIPT, genetic counseling is an essential part of the prenatal testing process. A genetic counselor can help comprehend the results of these tests, explain their implications, and provide support in making informed decisions. Genetic counseling can also help you understand your options if a test comes back positive for a genetic condition, such as further diagnostic testing or exploring options for managing the pregnancy.

Genetic counseling is particularly important if you have a family history of genetic disorders or if you belong to an ethnic group with a higher prevalence of certain inherited conditions. A counselor can also help explain the emotional and psychological aspects of the testing process and support you in making the best decisions for you and your family. ^{8 9}

Conclusion

Choosing between carrier screening and NIPT depends on the specific information you wish to learn during pregnancy. Carrier screening is an excellent option for identifying inherited genetic conditions that may be passed down from one or both parents. NIPT, on the other hand, provides crucial information about chromosomal conditions that could affect the fetus.

MedGenome is a leading provider of genetic testing services, offering both Carrier Screening and NIPT, among other advanced genetic tests. MedGenome combines cutting-edge technology with genomics expertise to provide precise, comprehensive genetic testing services that enable individuals and healthcare providers to make educated pregnancy decisions.

References

1 Prenatal Genetic Testing Chart. (n.d.). ACOG. https://www.acog.org/womens-health/infographics/prenatal-genetic-testing-chart

2 Genetic Carrier Screening vs NIPT | Monash Ultrasound for Women. (2024, January 18). Monash Ultrasound for Women. https://monashultrasound.com.au/services/prenatal-testing/screening-options/

3 Professional, C. C. M. (2024b, September 9). Carrier Screening. Cleveland Clinic. https://my.clevelandclinic.org/health/diagnostics/carrier-screening

4 Shiraz, Z. (2024, May 30). Non-invasive prenatal testing: Purpose, advantages, risks and limitations of NIPT. Hindustan Times. https://www.hindustantimes.com/lifestyle/health/noninvasive-prenatal-testing-purpose-advantages-risks-and-limitations-of-nipt-101717075156660.html

5 What is noninvasive prenatal testing (NIPT), and what disorders can it screen for?: MedlinePlus Genetics. (n.d.). https://medlineplus.gov/genetics/understanding/testing/nipt/

6 Professional, C. C. M. (2024b, May 1). NIPT Test. Cleveland Clinic. https://my.clevelandclinic.org/health/diagnostics/21050-nipt-test

7 Royal College of Pathologists of Australasia. (2014). Non-invasive prenatal testing. Royal College of Pathologists of Australasia. Retrieved from https://www.rcpa.edu.au/Library/Publications/Common-Sense-Pathology/Docs/2014/Non-invasive-Prenatal-Testing

8 Gordon, S., Umandap, C., & Langaker, M. D. (2023, January 16). Prenatal Genetic Screening. StatPearls – NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/sites/books/NBK557702/

9 Alliance, G. (2008). Prenatal genetic counseling. Making Sense of Your Genes – NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK115507/

Have you ever wondered if there’s a way to know about your baby’s health before they’re even born? Expecting parents often carry this concern, especially when they have a family history of genetic disorders.

Unfortunately, many genetic conditions can remain undetected until it’s too late to take preventive steps. In India, over 1.7 million 1 children are born each year with birth defects, many of which are linked to genetic factors. Thankfully, advances in genetic testing before and during pregnancy help parents with the tools to assess the risk of inherited conditions early on.

Why Genetic Testing Matters for Pregnancy

Genetic testing during pregnancy is essential because it allows you to detect potential health risks in your unborn child. It can also uncover if you or your partner carry genetic mutations that might cause disorders in your baby. This information can help you take early steps to either manage or, in some cases, prevent certain conditions.

From disorders like Down syndrome to cystic fibrosis, early detection enables timely medical interventions, personalised treatment plans, or decisions about further testing. The testing is not only beneficial for those with a family history of genetic conditions but also for every expecting parent who wants to ensure the healthiest start for their child.

Genetic Testing Before Pregnancy (Preconception Testing)

Some genetic testing before pregnancy can help you understand whether you or your partner carry any genetic disorders that might affect your future child. Standard preconception tests include:

• Carrier Screening: This test looks for genetic mutations that you can possibly pass to your child. Conditions like cystic fibrosis, sickle cell anaemia, and thalassemia can be detected through carrier screening. For most conditions to affect the child, both parents must be carriers of the same mutation.
• Expanded Carrier Screening: This is a more comprehensive form of carrier screening that checks for hundreds of genetic conditions. It’s particularly helpful for people from populations with a higher prevalence of certain conditions, like beta thalassemia.
• Genetic Counseling: Genetic counselling accompanies preconception testing, where a genetic counsellor helps you understand the risks and implications of the test results. It provides a clearer perspective on your chances of passing on a hereditary disorder to your future child and helps you make an informed choice about pregnancy.

Benefits of Preconception Testing

Preconception testing offers several advantages for those planning a family:

• Better Family Planning: By knowing your carrier status in advance, you have the chance to explore different options like IVF with preimplantation genetic testing or adoption.
• Reduce Risk of Inherited Disorders: If both parents are carriers of a genetic condition, specific IVF methods or prenatal tests can help reduce the chances of the disorder affecting your child and reduce the risk of genetic disorders.

Limitations of Preconception Testing

While preconception screening is undoubtedly beneficial, it comes with a few limitations:

• Limited Scope: These tests usually cover common genetic disorders, so rare conditions might not be detected during routine screening.
• Emotional Impact: Finding out that both partners carry a genetic mutation can be stressful while planning future pregnancies.

Genetic Testing During Pregnancy (Prenatal Testing)

Once a pregnancy is confirmed, prenatal genetic testing can provide more exhaustive information about the baby’s health. Some of the most common types of genetic screening tests done during pregnancy are as follows:

• Non-Invasive Prenatal Testing (NIPT): NIPT blood test analyses small amounts of fetal DNA circulating in the mother’s blood. This non-invasive prenatal test screens for chromosomal disorders like Down syndrome, Edwards syndrome, and Patau syndrome as early as the 10th week of pregnancy.
• Ultrasound: Along with NIPT, an ultrasound can provide clues to possible genetic disorders by detecting physical anomalies or abnormalities in the baby’s development.

The following diagnostic tests provide more detailed genetic information when needed:

• Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR): This rapid test identifies specific chromosomal abnormalities, including Down syndrome, Edwards syndrome, and Patau syndrome. It’s commonly recommended for women with high-risk pregnancies to screen for common aneuploidies.
• Fluorescence In Situ Hybridization (FISH): FISH is a prenatal screening method that uses fluorescent probes to detect and locate specific DNA sequences on chromosomes. This test is often used when there’s an increased risk of chromosomal abnormalities and provides faster results for conditions like trisomies.
• Multiplex Ligation-dependent Probe Amplification (MLPA): MLPA helps identify various genetic disorders by detecting changes in DNA, such as duplications or deletions of specific chromosome regions. This test can be beneficial in cases where there’s a history of genetic conditions.
• Chromosomal Microarray Analysis (CMA): This advanced test can detect small chromosomal changes that may not appear in traditional karyotyping. It’s especially useful for identifying genetic abnormalities in cases where other tests have been inconclusive.
• Low Pass Whole Genome Sequencing (LPWGS): LPWGS is a cost-effective method that provides a comprehensive view of the genome, helping identify copy number variations (CNVs) and structural variants that could indicate genetic disorders. It offers broad coverage and can be useful when other tests do not provide adequate information.
• Exome Sequencing: This sequencing approach analyses all protein-coding regions of the genes, helping detect rare genetic mutations. It’s recommended for cases where standard prenatal screening may not provide adequate information.
• Sanger Sequencing: Known for its accuracy, Sanger sequencing is used to confirm specific gene mutations identified by other screening tests. It’s often recommended when there’s a known familial genetic mutation that could be passed to the baby.

Benefits of Genetic Testing During Pregnancy

Genetic screening during pregnancy comes with several advantages, which are as follows:

• Early Detection helps identify potential health issues in the baby early on, allowing parents to be better prepared emotionally and medically.
• Better Medical Planning: Adequate information about the baby’s genetic condition enables your healthcare team to plan for any special care required at birth.
• Improved Support Services: Identifying genetic conditions early can help parents access support services and resources, such as early intervention programs, counselling, and educational resources tailored to their child’s needs.

Limitations of Genetic Testing During Pregnancy

Despite its benefits, genetic screening tests during pregnancy also have certain limitations:

• Risk of Invasive Testing: Some screening tests, like amniocentesis and CVS, may have a small risk of miscarriage.
• Emotional Strain: Abnormal results can be overwhelming and may lead to difficult decisions regarding the pregnancy.
• Possibility of False Results: No test is perfect; sometimes, false positives or negatives can occur, leading to unnecessary anxiety.

Conclusion

Genetic testing, whether before or during pregnancy, offers valuable insights into the health of your future child. From helping with family planning to detecting inherited conditions early, these tests empower you with knowledge that can guide important decisions. While these tests are beneficial, it’s essential to consult a healthcare professional to understand the limitations and choose the right tests based on your individual needs and family history. While genetic testing can provide clarity, it’s one of the many tools to ensure a healthy pregnancy and baby.

Take the next step for a healthy future with MedGenome’s reliable genetic testing services. Contact us today!