Polygenic Risk Score Test: Advancing Personalized Medicine

Patient information

A 31-year-old man felt sudden chest pain while at work. His colleagues on noticing his discomfort rushed him to the hospital. He was diagnosed with Myocardial Infarction and underwent Coronary Artery Bypass Graft (CABG). He and his family members were suggested to undergo Coronary Artery Disease -Polygenic Risk Score (CAD-PRS) Test to determine their genetic risk for Coronary Artery Disease (CAD).

Genetic History

Strong paternal history of heart disease was observed. Two uncles, father and grandfather underwent CABG at a young age. He first opted for the CAD-PRS Test. His family members were also tested for the same, especially his younger siblings

Genetic testing at MedGenome

Coronary Artery Disease -Polygenic Risk Score Testing for the proband and his immediate family was done at MedGenome

Result

The 31 year old man, father and brother were found to have a population high polygenic risk, the mother has a moderate risk and sister has an average risk.

Result

Sample	Age	Gender	CAD PRS	Odds Ration	Risk
Proband	31	Male	1.028	2.53	High
Father	56	Male	0.79	1.67	High
Mother	53	Female	-0.01	<1	Moderate
Brother	25	Male	1.77	2.42	High
Sister	26	Female	-0.345	<1	Average

Case Discussion

The Coronary Artery Disease – Polygenic Risk Score (CAD-PRS) for the man who underwent CABG was found to be 1.028. This score has been profiled as a high risk as observed in MedGenome’s study cohort of South Asian ancestry. On testing his younger siblings and mother to determine the risk for coronary artery disease we have found that the brother has a high risk and mother has a moderate risk. The results of the CAD PRS test have alerted the younger brother and the mother to their risk of developing CAD thus helping them be more vigilant and conscious of their diet and lifestyle.