The Role of a Genetic CounselorThe 2017 Moment Genetics Guide
Genetic testing offers people the chance to discover whether they are carriers of, or at risk of developing, a heritable disease. Dina Gold interviews Estie Rose, a genetic counselor and outreach coordinator at JScreen.
What does a genetic counselor do?
Clinical genetic counselors focus on reproductive, pediatric and adult-onset genetics. They deal with individuals who might be showing symptoms of a genetic condition. They assess personal and family medical histories and employ genetic testing to identify whether there is a genetic cause to the condition of concern. These could be childhood diseases, such as cystic fibrosis and hearing loss, or adult-onset conditions, such as hereditary breast and ovarian cancer and Huntington’s disease.
I personally specialize in reproductive counseling. I encourage people to undergo genetic testing for conditions that could affect their offspring, identify whether they are carriers of a genetic disease, and then explain the results and offer those at high risk options for building healthy families.
Why is carrier screening important?
Statistics tell the story—80 percent of babies with a heritable genetic disease are born to families who are totally unaware that they carry a genetic mutation. This number is too high; we need to make the Jewish community aware of how common many of these diseases are and to provide carrier screening in an accessible and affordable way so that people don’t miss out on the opportunity to get tested before something devastating happens to them.
If both parents are carriers of the same recessive disease, there is a 25 percent chance that each of their children will be affected with that condition. When we identify carriers or carrier couples, we encourage them to talk in depth to a genetic counselor about their risks and their reproductive options for having children. Carrier couples do not have to break up a relationship and can have healthy children together.
What does the “counseling” part entail?
I educate my patients about what their results mean and present options for them to move forward, and I provide emotional support to those who are facing positive results. Counselors never tell their patients what they should do, but we are available to talk through difficult decisions with them. We also might suggest involving a third party in the conversation, such as a rabbi or parent of a child with a specific genetic disease.
Is reproductive genetic testing advisable for everyone?
Broadly, when planning a pregnancy, the answer is “yes.” I recommend that everybody planning to have children have carrier screening before a pregnancy. This applies to Jews of all ethnic backgrounds, whether they are Ashkenazi, Sephardi, Mizrahi or of mixed ancestry. It does no harm to know your personal risk of carrying a genetic disease before you even start a relationship or get engaged. Also, since testing options evolve over time, it is important to ensure that any testing is up-to-date prior to each pregnancy, not just the first one.
What can someone do if they find they are a carrier?
Modern medicine has made many interventions available. The most commonly used assisted reproductive technology for couples at high risk is in-vitro-fertilization (IVF), followed by pre-implantation genetic diagnosis (PGD). During this procedure, one of the eight cells of any embryo is tested, and if it is found to be affected with the condition of concern, the embryo can be discarded and not used for a pregnancy. Many carrier couples will discuss the use of assisted reproductive technologies with their rabbis, and it is widely accepted in the Orthodox community for couples facing high risk.
Today, in the field of genetics, we are in the fortunate position of being able to be proactive rather than reactive. If people avail themselves of the many options we have to offer in the field of genetic testing, they can avoid much heartache.
Why would anyone hesitate to opt for carrier screening?
It could be fear of being stigmatized. In some communities, being a known carrier for a recessive disease, such as Tay-Sachs, might be considered a reason not to go ahead with a relationship. But I strongly believe that such factors should play no part in the matchmaking and dating process. Bear in mind that at least one in three of us is a carrier of some genetic disease and carriers exhibit no symptoms. A person’s carrier status says absolutely nothing about who they are as a person, their character traits or values, their temperament, their ability to provide for their family or their own personal health. This is not something to hide—on the contrary, it’s information to share with family members who may not have realized how important it is to get screened.
I truly believe in the old adage that “knowledge is power.” When a couple finds that one or both carries a genetic mutation, this will likely change their perspective on family planning. Although this information might be hard to swallow, in my experience couples are happy that they are empowered with information that makes it possible to make sound decisions about their future.