Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC

Once Upon A Gene

ONCE UPON A GENE - EPISODE 232

Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC

Abby Turnwald is a genetic counselor here to talk about genetic testing and the crucial role genetic counselors play in guiding families through the complexity of genetic testing and understanding the results. We'll discuss what parents can expect for their first appointment, the importance of seeking a referral, tips for navigating insurance coverage and the significance of re-analyzing genetic reports.

EPISODE HIGHLIGHTS

What is genetic testing and what does the first appointment involve?

Genetic counseling appointments are for a specific reason, condition, or symptom and can be with just a genetic counselor or with a genetic counselor and a geneticist, which is a physician. A genetic counselor will gather intake information about your child's medical history, family history and developmental history. They will also discuss genetic testing options and answer any questions you may have. Depending on insurance, sometimes genetic testing will happen at the first appointment, and sometimes it will require prior authorization. A physician may do a physical exam and work closely with the geneticist to determine the best plan for your child.

Why is it important for parents to consider doing genetic testing?

There's a lot more to a diagnosis because there's likely a genetic cause. Finding a genetic cause can be helpful in parents not holding onto any guilt they may feel. It can also open you up to a community for specific conditions where other parents are actively advocating for their children. Other genetic conditions may have health conditions parents may not know about, so it's important to know. Genetic testing can tell you the recurrence risk if parents are considering growing their family. Even if we don't find a genetic answer, it rules out a lot of other genetic conditions and that can be helpful for your care team.

Can you talk about the barriers to genetic testing and how to overcome them?

The biggest barrier is the wait time to get to genetic testing after you have a referral. It's often about a year, but go ahead and schedule it and look for other places you may be able to go. You can also ask your provider to order genetic testing before you see genetics. If your doctor doesn't think genetic testing is necessary, ask for the referral anyways. Genetic testing should be for anyone who has symptoms that are unexplained. Most insurance covers genetic testing now, but if a claim is denied it can be appealed. There are also more and more labs offering sponsored genetic testing if your child meets certain criteria.

LINKS AND RESOURCES MENTIONED

Project Findout

https://projectfindout.org/

Probably Genetic

https://www.probablygenetic.com/

CTNNB1 Connect & Cure

https://curectnnb1.org/

NSGC Find A Counselor Directory

https://findageneticcounselor.nsgc.org/

Follow Abby Turnwald on Instagram

https://www.instagram.com/pedsgcabby/

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