It is well known that in most households, women take primary responsibility for the family’s health from nutrition to medical visits. This is especially true during pregnancy and care of children. Medical genetics is a relatively young field where the choices and decisions may not be as clear and binary as in many other areas of medicine. Genetic counseling
is the process by which patients or relatives, at risk for an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing and transmitting it, and the option open to them in management and family planning. Being in possession of facts and making informed choices is crucial to women for not only their but also their family’s health and well-being.
How do you explain that genetic is not necessarily inherited? How do you convince women that there is precious little they can do to influence a genetic disorder in their children, inherited or otherwise? A positive screening test can be frightening – how can you elevate this anxiety, explain the options of diagnostic testing and help them chose the option that is right for them and their families?
Genetic screening and testing during pregnancy is becoming more commonplace and results can be quite confusing, especially as women delay childbearing to concentrate on their careers. Experience has shown that women in their 30s might have more emotional maturity, financial stability and social independence to raise children but this raises the risk of some non-inherited genetic disorders such as Down syndrome. The array of prenatal tests available is staggering – does one choose non-invasive first trimester nuchal translucency screening that may miss an affected child or should one take the risk of an amniocentesis that will provide a confirmed result? Did you know that the chance to deliver a baby with Down syndrome at age 35 is 1/385 or about 0.25%? That is, 99.75% the babies will not have Down syndrome! Even at age 40, the chance is 1/106 or 1%. 80% of babies with Down syndrome are born to women under the age of 35 and background risk for any birth defect is 3-5%. A genetic counsellor can help a woman (& her partner) navigate these issues and many others so she can make the decision that is right for her, without the fear of age or social pressures forcing her hand.
Heart disease (atherosclerosis or hardening of the arteries) is the number 1 killer of women worldwide and is more deadly than all forms of cancer. It causes 1 in 3 deaths each year, which is approximately 1 woman every minute! Yet we do not educate women about the symptoms, which can be quite different from those men experience. Genetic testing and counseling women on their specific genetic markers could make the difference between attending to and ignoring their heart.
The incidence of breast cancer in Indian women is estimated at about 1/28. About 5-10% of breast cancer is due to an inherited predisposition. What screening measures should a woman with a strong family history of breast cancer pursue? What other kinds of cancer influence this risk? Are there genetics test that may be right for her? What options would she have after the test? Are there are other genetic markers she can be screened for? How do these family histories affect her children? There are complex questions with even more complex answers that a genetic counsellor
can help a woman wade through to find the option most suited to her.
This is just the tip of the iceberg. Genetic testing and counseling is about empowerment and empowering women to take charge of their health and those of her loved ones is crucial for a balanced society. Giving her the ability to talk to a genetic specialist, voice her concerns and questions, get accurate answers and make an informed decision this is best for her…what a great way to improve her quality of her life!