With the dramatic growth of genetic technology in the last few years and with a little help from celebrities telling their stories about genetic testing, genetic counseling is accessible to a whole new audience. Genetic counseling is on the precipice of becoming part of mainstream, everyday conversation. But for the average American, how do they know if they need genetic counseling and genetic testing? We, in the field of genetic counseling believe our message is reaching the public and making a difference. But is it?
I have been a genetic counselor for over 30 years. For most of my career, almost everyone I met in social situations had never heard of genetic counseling. It’s only in the past few years that when I tell people I’m a Genetic Counselor, I’m not met with quizzical stares or a confused, “What’s that”? In a recent career workshop I participated in, most undergraduate students were aware of the genetic counseling field as high school students.
It is often a big life event that leads people to genetic counseling and testing. A marriage, a pregnancy, a diagnosis are all reasons that prompt people to seek genetic counseling and brings them into our offices. Often a doctor will suggest you speak with a genetic counselor to discuss genetic screening options if you are newly pregnant or considering a pregnancy. After birth, every baby has a newborn screening test done to detect genetic disorders. Most babies are screened at birth for hearing loss with the over half of the confirmed cases due to genetic causes. Similarly, a genetic counselor can be a tremendous support system for not only the patient, but the entire family when a diagnosis is about to change all of their lives.
However, I still believe that many people are “afraid” of genetic counseling. There is a stigma surrounding the field. But why? Do they think genetic counselors will tell them what to do, and force them into a decision they don’t want to make? Are they wary of the knowledge that comes with having a complete picture? Is it easier to accept the old adage, ‘ignorance is bliss’? Does genetics immediately bring them back to that ‘C’ in Biology? While any of these are possible and it’s likely a combination of these factors, the fact is, it’s our responsibility and our calling to make genetics and genetic counseling more user friendly.
Along with unawareness or fear of the unknown, psychological issues can lead people not to seek help. One common reason is denial. Denial is a psychological mechanism that protects us from information that we don’t want to know. Denial works great until it doesn’t. In the case of a family history of a neurologic condition like Huntington Disease, you may be aware that something is wrong, yet nobody talks about it and no one is sure why some people in the family have these symptoms and others do not.
This also happens with more common hereditary conditions, even those that most people don’t think of as a genetic disorder such as cancer. When there are multiple individuals in the same family that have cancer at young ages, it is often suspected there is a cancer family syndrome. When a new diagnosis of cancer is made in a family member, the family goes into crisis mode – Finding the right doctor, the best surgeon, the cutting edge clinical trial. Genetic counseling and genetic testing may not be the first thing that comes to mind.
We are starting to bridge the gap between diagnosis and treatment for genetic diseases and cancer. Increasingly, treatment options are tailored to the person with a particular variant in a cancer gene. Now is the time for individuals in families to have cancer genetic testing so the best treatment options can be considered and implemented as soon as possible.
When a genetic disorder has been diagnosed in a family, at risk individuals are often motivated to seek genetic counseling because for them “not knowing is worse than knowing”. They need to know whether they have inherited a particular gene or not to make life decisions. Uncertainty has taken over their life, compromising their decision making, affecting their quality of life, not being able to make choices and failing to see their future clearly. As Marianna states in the film, The Lion’s Mouth Opens, not knowing her Huntington Disease gene status, is driving her decision to take the test.
Genetic counseling can be the answer. Individuals who seek genetic counseling learn about genetic testing options. They have no obligation to take the test when they have genetic counseling. These individuals are seeking information and enabling themselves to make educated decisions. This is the essence of genetic counseling.
One of the first things I learned as a genetic counseling student was to start where the patient “is at”. (Thank you, Joan Marks.) This means that as the genetic counselor I ask questions, try to establish rapport, and get to know what has motivated the person in front of me to seek genetic counseling. This is essential to effective genetic counseling. Although in each session I have to convey vital technical information to the patients, the key to successful counseling is establishing that connection. The counselor must become a trusted advisor as well as a confidant when asked to do so. Talking with a genetic counselor is a two-way street, sharing family health information, how the family handles medical problems, learning something about a person’s coping style, support system, all lead to effective genetic counseling.
As with any encounter with a medical professional, some genetic counselors are better communicators than others. But our field is based on effective communication about the complex field of genetics. We are here to promote knowledge and understanding of genetics. We are always seeking to answer the ‘what ifs?’ and the ‘now what’s?’ With current advancements , everyone should be asking themselves if they need a genetic test, what the test is going to show, what will I do with the information I learn from the genetic test, how will it help me, how will it help my family members? What difference will it make? Who will explain my test results? How will I deal with the results?
Some of us may say that there are not enough genetic counselors and they are too hard to find. But have that many of us really looked? Genetic counselors want to help people get the most accurate information about genetic diseases and genetic testing. Ask your doctor for a referral. Find a genetic counselor on the National Society of Genetic Counselor website, NSGC.org. Genetic counselors are experts in explaining everything you want to know about genetics but are afraid to ask.
This op-ed is a part of a Huntington’s Disease Awareness Month collection and in collaboration with The Lion’s Mouth Opens, which premiered on HBO this June 1st and is available on HBO Go and HBO Now.