Over the 8+ years that I have been involved in the world of genetics, genetic counseling, and genetic diseases, I’ve seen a lot. I have met with families who have had children suffer and die from terrible diseases, and those who have lived with debilitating genetic diseases. I’ve met with women and couples who have made the difficult decision to terminate a pregnancy of a fetus that would have been born with a terrible disease, and those who decided to continue those pregnancies, instead committing to living a different life than they had previously imagined. I have seen families that have been torn apart dealing with the challenges and stress which come along with having a child with disabilities, and those families which have rallied together, and come out on the other side, stronger. More recently, I’ve begun to encounter many more questions coming from families and couples who are involved in the processes of marriage and dating.
I think that especially because of my time working in the realm of pediatric genetics, I have softened in my approach to disability and genetic diseases. Prior to that, I saw people in the world in more distinct groups, those “typically developed” (normal?) and those with “disabilities” (not normal?). But over time and through these experiences, I started appreciating the subtleties and variation which exist in ALL families. The child who needs extra help in school, is he “normal” or not? How about the one who needs glasses? Or has ADHD? Or asthma? Or allergies? Or was born with a heart condition? How about the adult with Crohn’s disease? Or Lupus? Or high cholesterol? Or depression? Not all things labeled as “genetic diseases” will cause a lifetime of sorrow, and not all “minor medical issues” are as straightforward and can be glossed over. There are small variations in our genes which contribute to who we are and what medical or developmental issues we are born with or will develop in the future. How do we make the distinction between what is “normal” or “not a big deal” and what is a “problem”? Who gets to make that decision, and why?
These “issues” start becoming sticky when we begin to think about family medical histories in the context of marriage and dating. Clearly, the goal is for an individual to live a long, healthy, and happy life with their chosen spouse. Often, having healthy children and grandchildren falls on to this wish list as well. So asking about your potential spouse’s significant family medical history makes sense. And pursuing your recommended preconception carrier screening can help determine if a couple would be at risk to have a child with a specific genetic disease. But how much is too much? Should we also be administering vision, hearing, and IQ tests prior to an engagement, or asking to see a potential partner’s medical records? There need to be limits to this “digging,” and every issue uncovered can’t be assigned the same weight.
We all need to understand that each of us has variations in our genes which are likely beneficial, and those which likely cause problems in development or an increased susceptibility to disease. EACH OF US. Not just those of us with children who have physical disabilities, birth defects, or mental retardation. Not just those of us with known genetic diseases in our families. EACH OF US has imperfections in our genes which can and will be passed down to our children. It is just part of being human. Not only does the “perfect” person not exist from a personality standpoint, but he or she does not exist from a genetics standpoint either.
Life is full of challenges, and there are never any guarantees; not with happiness, not with finances, not with job stability, and not with health. Our communities need to have realistic expectations for what we can, and what we cannot “control for” in the realm of health and genetics. When it comes to marriage and dating, we need to think about the bigger picture of compatibility; communication, personalities, ideals, interests, lifestyle, religiousity, attraction, life goals, and values, among others. We should use our family medical histories and genetic carrier screening as guides to help us take steps to keep our families healthy, not as a barrier to prevent us from having families.
Post script: I did take my husband’s pedigree on our first date but in my defense, I was studying for my boards, and he asked what I did as a genetic counselor. Arguably, not my fault.