10 Questions to Ask Your Family Before Your Genetics Appointment
So you’ve been told you need to see a genetic specialist. This could be a genetic counselor, geneticist, or a genetic nurse. Our job is based a lot on what you are able to tell us about you and your family. The more you know, the more you’ll get out of our time together. So get on the phone with Grandma, or Mom, or Uncle Joe, or whoever it is in your family that keeps track of everyone’s business, and take notes. It’ll really cut back on “What was that thing Aunt Jane had, again?” phone calls during your session.
Here’s what to ask:
1. Was anyone in the family born with any problems?
This could be anything from a birth defect that needed surgery, to a stay in the hospital that was longer than normal. Try to find out what the problem was, what treatment was required, and if that person has had any other major medical problems in their lifetime. Any complications their mom had during pregnancy or delivery might help explain what happened, too.
2. Does anyone have intellectual differences or disabilities?
While things like autism, learning disabilities, or intellectual disabilities (formerly called “mental retardation”) aren’t always strictly “genetic,” they sometimes have genetic influences that could make their relatives more likely to develop the condition. How old were they when the problem was first suspected? What were the first signs? Is the problem stable or has it gotten worse over the years? Do they have any physical conditions as well?
3. Has anyone developed a condition or major illness in childhood or as an adult?
Conditions like epilepsy, type II diabetes, hearing or vision loss and cancer can have genetic components or influences. Try to find out how they were diagnosed, how old they were, and what kind of treatment they’ve had.
4. Does anyone have mental health challenges?
This subject can be really taboo for some families, but are an important part of a complete assessment. Ask about conditions like depression, anxiety, bipolar disorder, and schizophrenia.
5. Has anyone had trouble having kids?
Note if anyone has been unable to have children (and why, if they know), and if anyone has lost any pregnancies. Miscarriages are actually extremely common. We think about half of all women will have at least one in their lifetime. But if someone has had 3 or 4 miscarriages, or lost a baby close to term, it can be a red flag.
6. What country(ies) is our ancestry from?
For some people, this is super easy. Grandma and Grandpa on both sides were from Thailand, as were their grandparents and their grandparents before them. But a lot of people’s heritage is more murky than that. Jewish heritage, especially Eastern European (or Ashkenazi) Jewish heritage, is important to note as well.
7. Does anyone have a genetic condition?
Obviously, if you’re going to see a geneticist, this is an important one! Some of the more well known genetic conditions include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, hemophilia, Huntington disease, and Down syndrome.
8. Has anyone had genetic testing in the past?
This is another obvious one that sometimes gets overlooked. While we genetic counselors always hope that people go home and tell their family about their genetic test results, it doesn’t always happen. Even if the results were normal, it can be important to know that the test was done. Since genetic analysis gets complicated, and can sometimes cost thousands of dollars, we appreciate it when someone else has started the work for us.
9. Do you have records of that? And can I have a copy?
Documentation of a family member’s condition in the form of doctor’s visit summaries, lab results, surgical notes and pathology reports help tremendously in getting an accurate assessment. People don’t always have the best memories and medical jargon doesn’t help in keeping things straight. These records can be especially important when evaluating for hereditary cancer syndromes. You’d be surprised how many times a patient thinks their sister had ovarian cancer, but the records show it was actually cervical cancer (which is not likely hereditary), or that their dad had liver cancer, but it was actually a colon cancer that spread to the liver. If the person doesn’t have a copy of the records themselves, they might be able to get them through the doctor or hospital that treated them. Many facilities hold records for 10 years or more.
10. Will you come with me?
Ok, so you don’t need to bring everyone with you, and you might not feel comfortable answering all our personal questions in front of Uncle Joe, but sometimes having a extra pair of ears listening to what we have to say can help, especially in the case of difficult news.
Every family is different. Some may talk about all of these subjects freely, and others will be offended these questions came up in the first place. Explaining why you’re suddenly so interested can go a long way in getting honest answers from people. If you can relate it back to how your appointment could be important to them or their kids, that can help, too. You could say something like, “I’m going to see a geneticist because my mom had breast cancer at such a young age. I know they’re going to ask me about the family. It could be important for everyone if they find something, especially our daughters. Do you know if…”
No matter why you’re being sent to genetics, it’s a good idea to ask all of these questions and not just focus on the ones you think apply to your situation. A problem you thought was completely unrelated to your condition could end up being the key to solving the whole puzzle. It’s always better to have lots of information that ends up being irrelevant, than to have too little information and miss something important. Also, don’t forget to ask these questions of your partner’s family if the appointment is regarding a child or pregnancy.