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Deborah Howell (Host): Welcome. With so much new technology out there, more and more women and couples are taking advantage of genetic counseling in pregnancy and that’s our topic today. My guest is Christine Hake. She’s a genetics counselor at Tri State Perinatology at Deaconess The Women’s’ Hospital. Christine, before we begin, tell us a little bit about the partnership between Tri State Perinatology and Deaconess if you would.

Christine Hake, MS, LCGC (Guest): Oh well Tri State Perinatology is within the Women’s Hospital. We are an outpatient office that provides high risk obstetrical care and genetic counseling. And the Women’s Hospital is a little bit unique in that it’s partnered with Deaconess Healthcare System. It is partly privately owned by a group of physicians and partly owned or under the umbrella of Deaconess Healthcare.

Host: Got it. Okay now the five hundred million dollar question, what is a genetics counselor?

Christine: So, I think of genetic counselors as what’s called an allied healthcare professional or a midlevel provider. So, other examples of that that people might be a little bit more familiar with would be for example like a nurse practitioner or a physician’s assistant, maybe a social worker. But genetic counselors are a little unique in that they are healthcare professionals who have unique and specialized training and experience in areas of both medical genetics and in counseling. So, they work in a number of different healthcare settings and generally as part of a healthcare team to provide risk assessment, education, support to individuals and families who are potentially at risk for or diagnosed with a variety of different genetic conditions.

So, I personally am involved in the area of again high risk OB. So, I provide prenatal genetic counseling. So, generally I am seeing couples who are either currently pregnant or thinking about a pregnancy and potentially have some concern either based on family history, medication exposures or something that arises unexpectedly during their pregnancy.

Host: Understandable. That’s your specialty. Now are there different kinds of genetics counselors?

Christine: There are. The field has really expanded a lot over the years as medical genetics itself has. And so it’s really kind of an exciting time to be in the field. But many genetic counselors still do what’s called clinical care meaning they are in an office, medical office setting or a hospital setting and that can include anything from prenatal genetic counseling as I do to pediatric genetics working with families who have babies, children even into adulthood with genetic conditions.

Many genetic counselors now specialize in what’s called cancer genetic counseling where there might be inherited predisposition to onset of cancer in the family. Some are involved in cardiac genetics, adult neurological conditions and then some have more nontraditional roles where they are more in a nonclinical setting. Maybe they are involved in research or public policy. Maybe they do education, teaching or work for a clinical testing lab and they are helping to facilitate testing, is it appropriate and the interpretation of those test results to physicians and their patients.

Host: Got it. What should I expect during my visit?

Christine: So, I think that of course it’s going to be a little bit unique depending upon the specialty area and of course each individual session and family. But I think there’s some key components to a genetic counseling session. So, I always like to start the session by just getting a feel for what the patient’s concerns are, what their expectations are, and goals are because those I find maybe in line with what I was expecting but maybe a little bit different.

There’s the information gathering part to the session. So, getting a detailed medical history, pregnancy history if indicated, of course social history and of course family history. And then interpreting that to assess any potential risks for individuals for potentially a genetic condition. And then there’s of course a big education component that goes along with that, explaining what those risks are, where they come from, whether or not there’s any appropriate testing that would be available, what that best testing is and those potential results and helping the family to understand those test results and the counseling component comes in and that can a little bit of an anxiety provoking process for our families.

So, to help them through that process and hopefully help them to adjust to potentially new information and new diagnosis of a genetic disorder either in themselves or a family member.

Host: It sounds like you make everybody as comfortable as possible and that’s I’m sure very much appreciated. Now why might someone be referred for prenatal genetic counseling?

Christine: There’s quite a few reasons. So, it can be anything from generally anything that would indicate a slight increased risk to pregnancy and oftentimes in that process, we are actually able to give folks reassurance that the risks are not as high as they perhaps felt they were. But that could be as simple as just a mom who is a little bit older and we generally define that as a mom who is 35 or older. It could be a couple who is trying to have children and has experienced some pregnancy losses. Perhaps mom has some concerns about some medications she’s on and would that be safe during pregnancy. And then again, unexpected findings during an ongoing pregnancy whether that was based on a blood test that indicated a potentially increased risk to the baby for a genetic disorder for example such as Down’s Syndrome or perhaps an abnormal finding that was performed on an ultrasound that was just routinely done during their pregnancy. So, there’s been a number of different potential reasons.

Host: So many reasons, so that brings me to another question. What kind of genetic tests are available? Are there different kinds?

Christine: There certainly are. So, that’s also something that’s expanded greatly over the years. So, there are certainly some genetic tests that are done for clinical diagnosis. A person is felt to potentially have a genetic disorder and the test is run, generally a blood test to look for the gene that causes that disorder and either confirm that or rule that out.

In the prenatal setting, of course we are focusing on again the risk to baby. So, if there’s a condition in the family history, we might test for that whether that would be oh for example, cystic fibrosis. There can be carrier testing that is done which is really looking to see if couples are considered to be an at-risk couple for a genetic condition. We all carry certain genes that don’t work correctly and that could potentially be a risk to baby. Really only in the setting if mom and dad both carry the same recessive gene. So, that kind of testing can be done again, if there’s a positive family history or someone just kind of wants general screening to see if they are potentially an at-risk couple.

And then there’s now a number of screening tests that are available to screen for conditions such as spina bifida and Down’s Syndrome. And those tests have changed over the years and there’s a number of tests that are now available. So, I think that can be a little bit confusing for our patients and our families. There’s a newer test that is available something called cell-free DNA testing or noninvasive prenatal testing and that screens for Down’s Syndrome and some other rare chromosomal problems such as Trisomy 13 or Trisomy 18 and given just the options that are now available to women and the different accuracy of those tests. I think that can be a little overwhelming for them.

So, I think making sure that they are being an advocate for themselves and either asking their healthcare provider exactly what tests are you considering doing, what does that really look for, how accurate is it and making sure they are getting questions answered and I think the ideal setting to do that is pretest counseling. And so in a busy OB practice sometimes that can be a little bit hard to be able to really get into those details. So, I think genetic counselors are perfectly trained individuals of course to really discuss those options and help families and individuals decide is that the best testing option for me or not.

And I think an important distinction in the prenatal setting is the distinction between screening tests which when normal reduce the risk to the baby but cannot rule them out and when positive say there’s a greater risk but not that that baby definitively has that condition versus diagnostic testing. And diagnostic testing would include for example things like an amniocentesis where that’s done under the direction of a high risk OB physician who has training in it and under the guidance of an ultrasound but is actually inserting a needle into the mom’s abdomen and then doing some testing on the cells that they obtain directly from the baby. So, there can sometimes be confusion between screening tests versus diagnostic tests and again, I just fell it’s very important that patients have a very good understanding about what type of testing they are having done and then what that might mean for them in terms of the duration of the care for their pregnancy and also possibly affecting care in the newborn period as well.

Host: Absolutely. Now everybody’s concerned about personal security. So, who has access to a patient’s genetic test results?

Christine: That’s a great question. And most people I think are now familiar with federal regulations such as HIPAA, that protects our medical information, our privacy and so genetic test results of course fall under that as well. There are also some other protections for genetic test results including something called GINA which is the Genetic Information Nondiscrimination Act and so that’s meant to protect individuals from possibly being discriminated against from their genetic test results either by their employer or by their health insurance. It’s not perfect. It doesn’t cover everybody. But it covers most people who have insurance for example with employers greater than 15 individuals.

But there definitely are protections out there. I think genetics is a little bit different than other areas of medicine in that those test results aren’t always impacting potential healthcare for the individuals themselves, but it can potentially have repercussions for other family members. So, I of course can never share someone’s results with other family members without their permission. But I will commonly have conversations with patients to explain that you are a carrier of a genetic condition, your siblings who haven’t yet started their families could also be a carrier of this condition and I would very strongly encourage you to share that information with them. If they have any questions, please feel free to use me as a resource and so that their extended family members would certainly have the option then of speaking with their healthcare provider, genetic counselor to make a decision about whether any type of testing would be a good option for them or not.

Host: Okay. Now the biggy. What is the cost of genetic testing and is it generally covered by insurance?

Christine: So, that can vary a lot of course depending on the test and the complexity of the testing. I would say overall, the cost of testing is decreasing but some genetic tests we do patients may have no out of pocket expense. It may be $100 but there are of course some genetic tests that involve very large panel of genes that could be a few thousand dollars. So, it really can vary. And it’s also a little bit hard unfortunately to predict whether insurance will cover it or not.

Most insurance companies generally do cover genetic testing. There are some exceptions to that. So, I always advocate for patients to of course be asking those questions. Genetic counselors can certainly help them navigate through that. Most offices will have staff that can provide or look into whether or not something would require prior authorization or any type of predetermination of benefits. And most genetic testing labs these days also have staff that look into that and then work with families to give them an idea of what the cost would be after they run it by their insurance. And then work with them in terms of if it is a significant cost in terms of are there any financial assistance programs available or like a payment plan. I would really hate for someone to make a decision to not have a genetic test done that they otherwise wanted because of the cost because again, there’s many things in place to help those families deal with that cost.

Host: Got it. Yeah and I agree with you completely. Now can a person have genetic testing without seeing a genetics counselor?

Christine: They potentially can. And there certainly is a growing number of companies who now provide what’s called personalized genetic testing or direct to consumer genetic testing. And that’s something that is sometimes done more for kind of “fun things” like finding out your ethnic background or perhaps just finding out about certain traits or characteristics such as dimples or possibly hair loss to other things where it’s really going to be testing more for genetic disease, cancers, predisposition for example and so, I would just encourage someone if they were considering that to really kind of do their homework. What kind of testing are they looking for? Is it more just ancestry or is it something that’s going to have ramifications for their healthcare and then just to realize that you might not always kind of get what you’re expecting.

So, for example, ethnicity might be a little bit different than you were expecting. Sometimes if multiple family members undergo the direct to consumer testing it may uncover certain relationships that were different than had been believed prior to the testing. I think you also need to be an advocate and check to make sure it’s a certified lab who is doing the testing, know exactly what health conditions are being tested for. A good example would be if someone has a strong family history of cancer and thought oh well, some of the direct to consumer companies do test for some of the cancer genes and they may look for a few specific mutations in the genes, but they may not necessarily look for all the changes in the gene that can cause disease. So, you always worry a little bit about without proper education, is that person if they have a normal result kind of having some false reassurance in that the testing perhaps wasn’t quite as extensive as they were thinking it was going to be.

So, again, I just think you need to be an informed consumer and of course being in the field, I do really advocate the education part and especially if there are concerns in the family history. Really sitting down with a healthcare professional who has background in genetics like a genetic counselor.

Host: I agree with you 100%. Now how – my last question to you is how do I find a genetics counselor?

Christine: So, that can be possibly just having a discussion with your physician. Hopefully they’ll be aware of what resources there are in their community. Certainly smaller communities aren’t necessarily have a genetic counselor available so, it may be a little bit of travel. There is the parent organization for genetic counselors called the National Society of Genetic Counselors. So they do have a website www.nsgc.org and so they have a list of national genetic counselors that are available. So you can always check that website and there’s a lot of genetic counselors who are now providing phone consultations or like Telemedicine type of consultations so it may not always mean necessarily having to travel.

Host: Got it. Well this is such excellent information. Christine, I thank you so much for being with us today. you’ve been a wonderful, wonderful guest. Thank you again for coming.

Christine: Well great. Thank you for having me.

Host: This is Deaconess The Women’s Hospital – A Place for Your Life. To learn more about Tri State Perinatology and Genetics Counseling please visit www.deaconess.com/TSP, that’s www.deaconess.com/TSP. I’m Deborah Howell. Thanks for listening and have yourself a terrific day.