Genetic counseling a healthcare specialty focusing on the medical, familial and psychological implications of genetic diseases. It is for this reason that most genetic counseling appointments last longer than your average consultation with a doctor. And this is also why genetic counselors and doctors need to work closely with each other to give their patients the most effective health care.
Genetic counseling is a healthcare specialty focusing on the medical, familial and psychological implications of genetic diseases. It is for this reason that most genetic counseling appointments last longer than your average consultation with a doctor. And this is also why genetic counselors and doctors need to work closely with each other to give their patients the most effective health care.
We know that personal genomics tests use advanced scientific technology and knowledge to provide risk assessment and this can help doctors take better care of anticipating their patients’ health needs. Family history is an important reflection of genetic risk, but we know that common diseases are multifactorial in nature. So while a positive family history provides undeniable information, the absence of family history implies not the absence of risk, but a normalization of risk to that of the average population. However, average is a statistic, and we aren’t just “average” human beings.
Each one of us has our own unique DNA, our unique lifestyle, our own little food and exercise habits, some of us are dealing with illnesses, and we’re each exposed to a unique set of such “factors” that could modify our risk. Identifying these risk factors, plugging them into a personal genomics report and helping individuals understand what this means for their health management is a significant part of a genetic counseling appointment. Such a personalized approach can help individuals take charge of their own health and become active partners in health management. Significant human barriers, though, are a lack of awareness, and fear.
The question most people ask me is “Why would I want to know all of this when I’m healthy if there’s nothing I can do to change my DNA?”. To that, my response is that while we certainly can’t change our DNA- at least not yet!- we can take control of some of our modifying risk factors. The purpose of risk assessment is to identify the most appropriate screening interventions for that particular risk category. For example, if a woman had a high risk for breast cancer, the screening recommendations I would make would include mammography starting at age 45 years. Why? Indian women are diagnosed with breast cancer about a decade earlier than women in the western world; a possible outcome, is that most cases of breast cancer in India are diagnosed at Stage 3 which is associated with a low survival rate; proactive screening by mammography could help identify breast cancer at Stage 1 where the survival rate is over 90%. Such awareness makes the choice seems clear to most women to seek genetic testing. Having said that, for some women, the familial and psychological burden of knowing their genetic risk is just too much. For these women too, genetic counseling will help them understand their risks based on factors including family history, how old they were when they got their period, do they have children, how many, did they breast-feed, what age did they reach menopause, what kind of foods they eat, what is their level of exercise, and other lifestyle factors. Such risk assessment, independent of genetic testing, is extremely valuable in implementing potentially life-saving screening.
However, breast cancer is just one example of a disease that affects women in a significant way. By no means trivializing the experience or impact of breast cancer, women’s health must also focus on other conditions that are far more prevalent than breast cancer. For instance, heart disease and diabetes. According to stats from American Heart Association, 1 in 3 women will die of heart disease compared to 1 in 9 women dying of breast cancer; women have a higher lifetime risk of stroke than men and are lesser likely than men to survive their first stroke; and, finally, 90% women have one or more risk factors for heart disease. The good news here, is that 80% of heart disease and stroke events may be prevented by lifestyle changes and education. Diabetes is especially concerning for women as it can impact their health as well as the health of their unborn baby. Fetal organ development is completed by the 7th week of pregnancy, when most women just realize they are pregnant, and uncontrolled blood sugar levels at this crucial time comes with many risks including miscarriage, premature delivery, C-sections (as babies born to diabetic mothers are larger), infections, etc. Ideally, women must get blood glucose levels under control before getting pregnant. PCOS and endometriosis are also examples of conditions affecting a woman’s reproductive health. Furthermore, low levels of thyroid hormone (hypothyroidism) during early pregnancy is associated with developmental delays in the baby, and can be easily prevented with regular monitoring and supplementation of the inadequate hormone in women who are pregnant or desiring pregnancy.
Genetic counseling is aimed at anticipating risks and facilitating diagnosis, management and well being. And this again, is why it is important for doctors to refer to genetic counselors. It is not about physicians, or genetic counselors, or a referral system; it is about our patients and their care. It involves interpreting medical and family history; providing personalized risk assessment for relevant conditions; educating patients about their risks, specific conditions, and options available for treatment and management; and counseling to promote informed choices and provide psychological support. Women can, and must, prioritize themselves, take charge of their health and be an active participant in their own healthcare. The metaphorical hand that rocked the cradle for a dose of vicarious living, now rocks the cradle and the world. How will we do that if we don’t take care of ourselves?
About the Author
Pooja Ramchandran is a pioneer in the field of genetic counseling in India. She has been practicing clinical genetic counseling in India since graduating from Johns Hopkins University in 2008. She is a much sought after expert in a niche profession and, being the first genetic counselor in the country with a formal degree in genetic counseling, she is committed to establishing the genetic counseling profession in India.
Ramchandran’s industry affiliations have included Eastern Biotech and Life Sciences in Dubai; Nutragene, Positive Bioscience, and Mapmygenome in India. She had also consulted as a clinical Genetic Counselor at hospitals including Lilavati, Hinduja Healthcare, in Mumbai. Ramchandran takes great pride in her association with Cancer Patients Aid Association (CPAA), a non-profit organization where she is involved as a cancer genetics educator and volunteers her time and expertise as a cancer genetics consultant. She is often invited as an expert faculty to speak on medical genetics and genetic counseling at international and national conferences as well as workshops and patient advocacy groups.