How your genetic makeup impacts your health

November 8 is Genetic Counselor Awareness Day. National Society of Genetic Counselors president Erica Ramos lives and works here in San Diego, and wants you to know that “your genes and your predispositions to disease have the ability to impact your health care quite a bit. A lot of conditions are driven by your genetic makeup, things like hereditary breast cancer or Huntington’s disease.” In the case of the latter, a neurological disorder which is incurable and almost always manifests, “you might want to make different life choices. Maybe get a job that allows you to be with your family more.”

At the moment, pregnancy is the most common reason people see genetic counselors, because pregnancy is the most common reason people get genetic tests. “We do testing to help identify different genetic conditions that may be present, which may help to inform decision making for a particular woman. Sometimes, that means pregnancy termination, but what we’ve found is that a lot of the time — particularly where there aren’t incredibly severe, end-of-life type things — people just want the information. They want to be ready.” Genetic counselors help address “the discrepancy between what people are expecting and what’s happening. It’s getting people to adjust from where their lives were to where they’re going. How do you make tough decisions?”

Ramos is a fan of information; she’d prefer it if parents knew the results of their own screenings before conceiving. “If you’re a carrier for a recessive genetic disorder like sickle cell disease, usually, you have to have a child with someone else who is a carrier in order to pass it on.” A counselor can discuss options: adoption, egg and sperm donors, even pre-implantation testing of in vitro embryos. “There are a lot of different paths forward. OBs and GYNs and genetics groups recommend we offer carrier testing in advance. We want to make sure people are as comfortable as possible with the information they have.”

As a fan of information, Ramos is glad to see the success of direct-to-consumer services like 23andMe. But while much genetic counseling centers around dealing with the results of genetic testing, she also stresses its value “in looking at people’s family histories, and the role that plays in their particular condition. Jehannine Austin up at the University of British Columbia does a lot of work in the area of bipolar, schizophrenia, addiction, things along those lines. Many of these are probably to some degree hereditary. The way she describes it is: say you have a jar and when that jar gets full of marbles, you trigger certain symptoms. Your genetics might mean your jar is already half-full. If you drink alcohol, that might add marbles. If you meditate, that might take some marbles out. The easy thing is for people to blame themselves: ‘If I hadn’t done drugs when I was a teenager…’ She’s seen positive outcomes for patients who can say, ‘I didn’t cause this condition for myself, but moving forward, I can have more agency over my life.’”