Genetic Counseling and the Fight for H.R. 3235

It started in 2013 when actress Angelina Jolie shared her medical story with the public in a New York Times op-ed. After receiving test results that showed she carries the BRCA1 gene, which increases women’s risk of developing breast cancer and ovarian cancer—the latter of which Jolie’s mother, aunt, and grandmother all lost their lives—Jolie underwent a double mastectomy and later had her ovaries and fallopian tubes removed to reduce her chances.

After the publication of Jolie’s story, there was a measurable spike in the number of women that pursued genetic testing for cancer. A retrospective study from a Toronto hospital found that the number of women referred for genetic counseling increased by 90 percent in the six-month period after Jolie’s announcement. And DTC services like 23andMe and Ancestry.com also reaped from the boom, drawing in individuals curious about their own genetic make-up.

Researchers, genetic counselors, and physicians can identify these variants thanks to the completion of the Human Genome Project in 2003. This international scientific project mapped every gene in human DNA and is commemorated each year on National DNA day on April 25th. DNA day also celebrates the 1957 discovery of DNA’s double helix and serves as a day to raise awareness in the public about the latest advancements in human genetics and how new research may impact everyday life.

Anyone can get involved with DNA day. To encourage participation, the National Human Genome Research Institute (NHGRI) has a list of events. Individuals are encouraged to plan their own events, and there is a comprehensive starter kit with all the tools necessary to get involved. There is also an online directory of geneticists available for educational or outreach programs to educate the public about genetics beyond being an at-home test.

There’s still a certain intrigue about the prospect of having your DNA analyzed, like a legitimate version of having your palm read. But the decision of whether or not to test your genetic predispositions to diseases should be treated with much more seriousness because of its potentially life-changing results. That’s where genetic counselors come in.

We talked to Dr. Deborah Cragun about genetic testing, the future of the genetic counseling career path in the U.S., and how a new bill could change the way our healthcare system provides genetic counseling services.

Genetic counselors have advanced training to interpret genetic tests considering factors such as genetic makeup, age, and unique family histories that put individuals at risk of certain diseases. They also help families cope with the psychological effects of receiving the information.

They may deliver answers to a parent about their child—for instance, that a child’s autism is likely due to an underlying genetic condition—or educate a patient about their genetic predisposition to cancer, as in Jolie’s case.

In her years working at Cincinnati Children’s Hospital and the Moffitt Cancer Center in Florida, Dr. Cragun became experienced in delivering such news to individuals and families. While receiving such information can, of course, be devastating, Dr. Cragun said there is also an empowering element for families.

“Sometimes it isn’t always ‘bad news.’ For instance, if a person has a really strong family history of cancer, finding out that it’s because of a certain gene can be good because there may be preventative actions they can take,” Dr. Cragun said. “Or if a family has had a child with developmental delays, learning difficulties, or other health problems and they’ve never known why, a lot of times finding out why is valuable and helpful.”

With DTC services like 23andMe available, why seek the help of a professional? Well, genetic counselors do much more than just deliver patients with data about their genetics. They first take a comprehensive look at your family history and talk to patients about the psychological effects of seeking genetic testing and discuss whether or not moving forward is something that would be beneficial to the patient. Then, taking that information into account, they may order blood work to determine specific genetic markers. Once the results come in, they review the findings with patients and talk about their options moving forward.

It’s also important to remember that these are not “diagnostic tests.” Having an expert that can help you verify and interpret the raw data is crucial. In a study on DTC tests from a sample of 49 patients, researchers found “40 percent of variants in a variety of genes reported in DTC raw data were false positives.” The same study found that some variants that fell within the “increased risk” classification by the DTC (or by a third-party interpretation service) are actually considered as benign, common variants.

The Guardian (July 2019) reported on a patient who was scheduled for a preventive breast-removal surgery after receiving DTC test results falsely suggesting she had a BRCA mutation. Thankfully, the surgery was canceled in the nick of time when one of England’s National Health Service labs determined the result was actually a false positive.

“I have had patients come in and bring us bad information and we will go through it. If it looks like there is something that there’s a concern [about], we recommend they get it verified in a clinical testing lab,” Dr. Cragun said.

Unlike more straightforward clinical screenings such as colonoscopies or HIV tests, genetic testing can be “fraught with uncertainty,” Harvard Medical School says, because tests show a person’s likelihood of developing a certain disease—not whether or not you have it. That’s why it’s beneficial to have a professional walk you through the process.

A journalist named Dorothy Pomerantz wrote a detailed account about what she thought would be a fun experiment, which would turn out to be a devastating blow delivered to her in an email from 23andMe. She ended consulting a genetic counselor later, who confirmed that the test was accurate and she was at serious risk of developing breast and ovarian cancer.

“I was devastated. But the way I felt [after talking to the genetic counselor] was totally different from the way I felt after opening the report from 23andMe,” Pomerantz wrote. “Talking to someone about the results versus reading them in an online report—even after wading through a long tutorial—was the difference between day and night. My counselor was sympathetic and knowledgeable … She left me feeling that while I had a difficult road ahead, I was going to get through this.”

A large part of the genetic counselor’s role is to help patients determine whether or not they want to pursue certain tests based on their personal situation. Services like 23andMe replace the sit-down conversation that a patient would have with a genetic counselor with a digital slideshow of information informing them of the serious potential outcomes of the tests, but many users don’t realize the seriousness of the potential outcomes and quickly click through the warnings.

Dr. Cragun doesn’t necessarily discourage people from using DTC services, but to approach with caution: “I would say people should pause and think about if you want this information and be prepared. You might find out something concerning you may need to look into more. [The DTC service] wants to make sure that you understand what you’re going to be getting into. So I would recommend really reading through it, not just clicking through.”

In Pomerantz’s case, she was ultimately glad that she ordered testing from 23andMe and ended up pursuing genetic counseling and preventative surgery. But Dr. Cragun added that in cases where little can be done to prevent a disease from manifesting, knowing your own likelihood of developing it may do more mental harm than good.

“Do you want to know if you have a high risk for late-onset Alzheimer’s disease for which there are no proven steps you can take [to prevent it], other than things you should do anyway, like a healthy lifestyle?” Dr. Cragun said. “Some people do. Other people might not,”

For those that choose to undergo genetic testing, there’s another very real factor to consider: cost. An individual without healthcare may not be able to afford a second genetic test to verify their results.

“Unless the patient has a family history that would lead us to order the test to begin with it, it may or may not be covered by their insurance,” Cragun said. “They may have spent money to pay for a test for fun and then need to spend additional money to pay for a test to rule out something concerning.”

The initial genetic testing for mutations on the BRCA genes cost about $4,000 out of pocket, according to Myriad Genetics, and if a patient does choose to go through with a preventive surgery like ovary removal surgery or a mastectomy with reconstructive surgery, the costs can climb into tens of thousands of dollars. Insurance usually covers at least part of the bill, but patients first have to be considered high-risk.

“I was very lucky that my insurance covered my expensive surgeries,” Pomerantz wrote in her personal account. “Without insurance, a woman wouldn’t have the option of high-risk testing or surgery. She would have to just live with the knowledge of her risk and her inability to act on it.”

HR 3235, which was introduced in 2019, seeks to amend title XVIII of the Social Security Act to expand the coverage of services provided by genetic counselors in the Medicare program.

It’s not a cure-all, but Dr. Cragun said she thinks the bill “would probably help and expand our services” to demographics in need.

“All of the insurance companies, for the most part, will reimburse genetic counseling services, but Medicare, in particular, won’t reimburse genetic counseling services that are delivered by genetic counselors,” Dr. Cragun said. “That would be, for the most part, poor and more elderly individuals who are not getting the services.”

Genetic counseling services are currently covered by Medicare if the services are performed by a physician whom Medicare would otherwise cover—but not from a certified genetic counselor. If you found that last sentence counterintuitive, then you read it correctly.

The discrepancy lies in the fact that the Centers for Medicare and Medicaid Services do not currently recognize certified genetic counselors as healthcare providers. But the passage of HR 3235 would change this.

Dr. Cragun mentioned one medical institution where the systemic problem was exemplified. “There was one place here in Florida that stopped having genetic counselors see a lot of their patients because they couldn’t get reimbursed, and so certain patients weren’t able to see a genetic counselor,” she said. “Is that fair? Well, I don’t think so.”

As a result, the affected patients were seen by other healthcare providers instead of genetic counselors. Dr. Cragun said she couldn’t attest to the experience of patients with the services that were delivered by physicians, “but we do know that genetic counselors have that luxury to spend a little bit more time with patients.”

This also presents an issue about resource efficiency: “On average, we [genetic counselors] are more likely to know more about the genetic testing options and can be a little bit more patient-friendly. We do certain things that other providers like OB/GYNs can, as well, but we don’t get paid as much as OB/GYNs, so why should the OBs have to take the time to do the things that we [genetic counselors] can do, rather than spending time doing the other services they provide that we cannot?”

Unlike the slowdown in demand for DTC services like 23andMe, the need for genetic counselors in the U.S. is no “fad”—demand for certified genetic counselors is projected to grow 27 percent nationally between 2018 to 2028, “much faster than the average for all occupations,” the Bureau of Labor Statistics says.

The growth is due to the expansion of precision medicine (a model that proposes the customization of healthcare, encompassing genetic counseling) and an increasing reliance on genetics in our healthcare system, according to Duke University’s science and policy website.

“There are a lot of people who still don’t know what genetic counselors are and what we do. The other challenge is that there aren’t enough of us,” Dr. Cragun said. “It’s amazing how underserved Florida is with regard to genetic counselors, though we’re the third most populous state.”

But Dr. Cragun says this gap isn’t necessarily due to a scarcity issue. “Hospitals, particularly in Florida, haven’t had the incentive to hire us because we can’t get reimbursed for our services, so we are just seen as costing the system money, and yet we know that we are more likely to select appropriate genetic tests than most other healthcare providers and more likely to interpret them accurately, as well,” she said.

Another specific area of need is for bilingual, especially Spanish-speaking genetic counselors. “We’ve been lucky to have a student each year [in the USF genetic counseling program] who is truly bilingual. As you can imagine, counseling in another language with an interpreter can be so hard,” due to the sensitive nature of results, she said.

There is a diverse array of settings that genetic counselors can work—including public and private hospitals, diagnostic labs, universities, and physician’s offices—as well as different specializations, such as prenatal, cancer, and pediatric, providing aspirants a variety of options for how they want to sculpt their career path.

A genetic counselor typically receives a bachelor’s degree in biology, social science or a related field and then enters a specialized training program like USF’s. Upon completion of an MS program, they sit for the national board certification exam administered by the American Board of Genetic Counseling (ABGC)—a requirement to become a certified genetic counselor.

The USF College of Public Health’s genetic counseling program includes a combination of training in medical genetics, genomics, communication, counseling, and public health.

“With our program, we have a lot more of a public health focus and some policy,” Dr. Cragun said. “Personally, I’m very passionate about access to services and thinking about population health, as well. We teach students to deliver individual services, but to also think on a population level.”

The 21-month program is fairly new and it earned accreditation from the Accreditation Council for Genetic Counseling (ACGC) in 2016. Upon completion of the program, students receive an MS in public health with a concentration in genetic counseling and are eligible to sit for the ABGC exam.

Despite the bittersweet nature of the duties of genetic counselors, the career can be very rewarding. “To find help someone find an answer—whether or not it helps prevent any serious complication down the road or not—is extremely helpful and valuable to them. Even just to benefit their mental health and their ability to say, ‘Now at least I know. I can find a group, a support organization, or other people who understand what we’re going through.’ Seeing just how much that’s helpful is amazing,” Dr. Cragun said.

There are a number of professional organizations and resources for genetic counselors. Joining a professional organization can be beneficial for genetic counselors as they can provide them with networking opportunities, continuing education courses, advocacy, and current research.

Often these organizations are involved in large-scale public awareness campaigns that can help bring attention to issues that are otherwise outside of people’s awareness, such as DNA day sponsored by NHGRI. This day is a celebration of the completion of the human genome project and the discovery of DNA’s double helix. It is also a day to learn about genetics and acknowledge the advancements made in the past year.

Here is a list of top resources and organizations in genetic counseling for professionals in the field, curious community members, or those preparing for DNA day.

• National Human Genome Research Institute (NHGRI)– The NHGRI is one of the driving forces behind the advancements made in human genetics. This organization is part of the National Institute of Health (NIH) and host DNA each year on April 25th.
• National Society of Genetic Counselors (NSGC)– Incorporated in 1979, the NSGC was one of the first professional organizations for genetic counselors. They promote education, research, and public policy that help ensure access to genetic counseling services.
• American Board of Genetic Counseling (ABGC)– Genetic counselors obtain their certification through the ABGC. Currently, there are over 5,000 ABGC certified genetic counselors.
• Accreditation Council for Genetic Counseling (ACGC)– Genetic counseling programs in the United States and Canada are accredited by the ACGC. Programs must adhere to a high level of quality in faculty, curriculum, facilities, and hands-on education in order to obtain and maintain accreditation.
• American Society of Human Genetics (ASHG)– Over 8,000 researchers are members of the ASHG. This professional organization for those working in human genetics aims to advance the understanding of genetics.
• American Board of Medical Genetics and Genomics (ABMGG)- The ABMGG certifies professionals working in genetics and genomics. They offer certifications in five subspecialties, allowing professionals to earn credentials in their unique field. They also offer continuing education to maintain certification.

Nina Chamlou

Writer

Nina Chamlou is an avid writer and multimedia content creator from Portland, OR. She writes about aviation, travel, business, technology, healthcare, and education. You can find her floating around the Pacific Northwest in diners and coffee shops, studying the locale from behind her MacBook.