Genetic Counselors - Who and Why?

Hello there!

Welcome to the first blog post of TheGeneScene.

Deciding my first blog post was a challenge. After a lot of thinking, I decided that it should be about who are genetic counselors and why do we need them? Not the most original, I know. But I got to start somewhere.

Genetic Counselors are healthcare professionals trained in genetics along with counseling (duh!) - we are taught to be empathetic and non-judgmental, to break down complex medical jargon and give you a safe space to talk about your feelings. You may not have control over what genes you inherit but you can certainly do your best to understand and make the most out of them.

There are over 7000 rare disorders. And while genetic counselors are trained to work with these rare and uncommon conditions resulting from defects in the genetic makeup, there are so many other genetic disorders becoming increasingly common and need genetic counselors. Let me tell you why -

Example #1 - In today's world, infertility is a pressing issue. Now imagine a couple visiting a physician for infertility or recurrent pregnancy losses. This could be due to a variety of issues. However, while most of the non-genetic causes can be treated with minor procedures or medication, there are no such options for genetic disorders. If the infertility or pregnancy loss is due to a chromosomal issue, healthcare providers have to find a way to work around it. This can lead to feelings of guilt, helplessness and despair along with differences between the couple. While clinicians do their best to address these issues, they are pressed for time. Genetic counselors understand these medical issues. So while they break down the cause for you and explain the intricacies, they will also discuss the couple's emotions and help them process their feelings.

Example #2 - Breast cancer is one of the most common cancers in India, with a prevalence rate of 25.8 cases per 100,000 people. A diagnosis of cancer in a family member can lead to a wave of mixed emotions. Cancers like breast, ovarian, stomach, colon, pancreas, prostate and some others can run in families through generations with multiple people being affected in each generation. An inherited cancer adds an additional layer of emotional complexity. Again, genetic counselors can assess the risk of additional family members of developing cancer and address the feelings of fear and uncertainty.

Example #3 - Neurodevelopmental disorders like autism, global developmental delay, speech delay can have a genetic etiology. Having a neurodivergent child can be a challenge in itself. A genetic diagnosis can help in identifying the exact cause of the disorder and improve management outcomes. Genetic counselors can help you in identifying the right test for your child and walk you through the results. They're here for you to understand your emotions and navigate your journey as parents. They can also help you understand the recurrence risk for the disorders.

Example #4 - Pregnancies are a period of joy and hope with countless dreams attached. As such, getting a high risk screening result or identification of an ultrasound abnormality can trigger feelings like fear and anxiety, which, if not addressed, has also been shown to have an impact on the baby. Having practiced in a fetal medicine clinic myself, I have first hand experience of how stressful even the smallest hiccup can be. There is also a heightened sense of uneasiness while waiting for the confirmatory results. Throughout all this, a genetic counselor can help manage the emotions the right way

Example #5 - Genetic counselors are great healthcare providers to get in touch with, not just in case of a diagnosis or disorder, but also to understand an individual's genetic makeup for nutrition, wellness and overall health.

So what I'm trying to say is that genetic counselors are here to provide a safe space for you to discuss your feelings and emotions surrounding your genes while also understanding the medical aspect of the situation and giving you a comprehensive picture.

Let me give you an example - A couple came to the clinic after a history of a failed IVF cycle. Their reason for opting for IVF was a previous pregnancy with Trisomy 18. Trisomy 18, or Edwards syndrome, occurs due to an extra copy of chromosome 18, usually as an accident. The recurrence risk for this in subsequent pregnancies is very low, especially with normal karyotype reports of both partners, which was also the case here. So essentially, there was no need for the couple to undergo IVF. Anyone who has undergone IVF will agree that it is not an easy process. However, this couple was coming from a place of lack of information and fear that the next child will also have Edwards syndrome. So they chose the difficulties of an IVF cycle over having to lose another pregnancy. One genetic counseling session was enough to address their fears and give them the correct information about recurrence risk.

Genetic counselors can make a world of difference to your journey related to your genes.

That's all for my first post, people.

For those of you who made it to the end of this, thank you. You're very kind. I hope to get better at this over time. Until then, I'm grateful for your support.

Lots of love,

Simran.