Treatments for coronary heart disease are in giving quality life to people. Bypass surgery increases survival chances as compared to angioplasty and stent. But when it comes to disease prevention, one often forgets the familial and hereditary factor. High risk families make a large proportion of early coronary heart disease (CHD) cases in the general population.

In one study these cases form 14% of total population. Further, sibling history of heart attacks seems to be a greater risk factor than parental history of early onset CHD. A proposed family risk score of CHD evaluate the ratio of observed CHD events to expected events in an individuals first degree relatives, adjusted for sex, age at the onset of first event.A higher family risk score in associated with greater CHD risk. Disorders associated with CHD such as familial hypercholesterolaemia comprise single gene trait responsible for CHD, which is transmitted in siblings. Mutation of certain genes are responsible for this and one important one is PCSK9. Based on this, we are going to get new way of lipid lowering therapy-PCSK9 inhibitors in the form of two new moleculesenlocumab and alinocumas where a person is resistant to statin therapy.

Genetic risk is profiled using polymorphic DNA makers. Studies are being performed to establish genetic linkage in people undergoing stress test and angiography studies. Genome linkage studios for quantitative measures of atherosclerotic burden including coronary artery disease and calcium lovels have been done. Genetic markers can be used to risk stratify the population so that once they know that they are prone to CHD, preventive steps can be taken by this subset of population to control the non hereditary factors such as obesity, diabetes. Hypercholesterolaemia, hypertension, smoking, sedentary lifestyle, etc.

Genetic testing is the future risk stratification module. It has a role to play in treatment post CHD. This potential allows use of genetic test to allow individual treatment and to discover new path ways of CHD and drug targets. This factor has to be kept in mind for all patients who have got CHD so that their families are on guard to prevent CHD in other members by taking preventive steps.

Genetic risk profiling will be included in clinical set of investigations in future and we at Ojas are making start of this era by offering genetic test that are available for cardiovascular situations as well as canoar, congenital defects, etc.

It will be available shortly through geneticist Ridhma Sarwal, who is MSc genetic with fellowship from Sheffield (UK) and through Ridhma Genome Centrein association with Medgenome of India. The required test will be available and based on the reports a fair evaluation of risk profiling and their modalities in other situations will be done systematically.

The article is co-authored by Dr Virender Sarwal and Dr Ridhima Sarwal. Disclaimer: The veracity” of any health claim made in the above article is the responsibility of the hospital/doctor concerned.