Q&A: New investments will support implementation of genomic information in practice
Penn Medicine announced that it has received a $9.7 million grant that will be used to fund continuing education and training for genetic counselors.
In a press release, Penn Medicine noted that further training will allow genetic counselors to “learn about specific hereditary disorders, assess risks, and make proactive decisions in areas from cancer prevention to family planning,” advancing the implementation of genomic information in practice.
The grant from the Warren Alpert Foundation, a nonprofit based in Rhode Island, will be sub-awarded to four additional institutions — Baylor College of Medicine, the University of Washington School of Medicine, Northwestern University Feinberg School of Medicine and Vanderbilt University School of Medicine — to fund online courses for genetic counselors.
The field of genetic counseling has seen substantial growth in recent years. According to the U.S. Bureau of Labor Statistics, the employment of genetic counselors is projected to grow 18% from 2021 to 2031, well above the average of 5% for most occupations.
Healio spoke with Kathy Valverde, PhD, LCGC, program director of the master’s program in genetic counseling at the University of Pennsylvania’s Perelman School of Medicine, and Daniel J. Rader, MD, chair of the department of genetics at the University of Pennsylvania’s Perelman School of Medicine, to learn more about what the grant means for the future of genetic counseling, as well as its implications for primary care.
Healio: What are some critical questions regarding the implementation of genomic information in practice that this grant will help answer?
Valverde: I think it's very difficult for a genetic counselor in practice at a community hospital who do have access to the types of resources we have in a major academic medical center to stay up to date, and I think that's why this grant is so important, to provide the continuing education that genetic counselors need.
The second part of the grant is to allow genetic counselors to become primary researchers so genetic counselors can research the implications of having positive genetic test results. I think that will be very helpful because a lot of times, people are on a diagnostic odyssey, and they don't know what problems they have and they see multiple specialists, and then they find out they have a genetic disease but there's no treatment or cure, and that's a really hard place for an individual to be in, sort of like a double-edged sword.
Rader: We need to expand the number of genetic counselors. We also need to expand the diversity of the genetic counseling profession in terms of background, ethnicity and race. This [grant] is really about, how do we really look hard at the genetic counseling profession in terms of the opportunities for genetic counselors to advance their careers like can be done in so many other specialties but has really never been focused on in genetics?
This is the first concerted effort, to look at the entire career ladder of genetic counseling and say, “How do we turn this into a more focused profession where there's a clear career ladder? Where there's incentives to stay in the profession as opposed to getting enticed to do other things that might be valuable, but don’t necessarily need a genetic counseling degree? How do we maintain a vibrant, well-educated, enthusiastic workforce in genetic counseling?” That is going to be so critical to this next phase of implementation of genomic medicine.
Healio: What are some recent updates in genetic counseling?
Valverde: I'm just amazed that there's treatment for some genetic diseases. Spinal muscular atrophy, for example. I cared for patients with this condition in the 1980s, and they all passed away. Now we have newborn screening. We diagnose them when they’re born, we put them on treatment, and they walk, thrive, and they survive. I think there's a lot of hope and optimism with genetic diseases that if we are very good about doing testing and making sure patients get care early, they could have treatment.
We do a lot of prenatal testing to tell families whether or not they potentially could have a child with a genetic disease, and they could decide if they want to have alternate forms or reproductive [in vitro fertilization], or [preimplantation genetic testing (PGT)]. There are just so many opportunities to change the course of some genetic diseases.
Healio: What are some implications for primary care?
Rader: I think it's inevitable that we're going to see more and more genomic information being generated and incorporated into clinical decision-making in all sorts of ways, and really going way beyond genetic testing for the diagnosis of classic, single-gene mendelian disorders. We will use genomic medicine more broadly for assessing risk of common disease for guiding preventive interventions.
I think one of the huge challenges for the field is communicating the implications of genetic testing results to patients in a meaningful way that they can understand, and that they also understand the implications for what they should do as a result of the testing.
It's very clear in my mind that expecting primary care physicians to be the ones on the front line to deliver knowledgeable interpretation of genetic testing results to patients, it's just not going to happen. I think we can get their level of sophistication to the point where they accept it and endorse it and understand that it's an important part of clinical care. But getting into the details of what this genetic test means for you... I just think it's going to be a huge lift. That's where the genetic counseling profession comes in, is serving as this intermediary between the physician and the patient with regard to interpreting genetic testing.
Healio: How could genetic testing and referrals be implemented within primary care practices?
Valverde: There are laboratories that provide patients with access to genetic counselors, so if the patient has a test through a laboratory, the laboratory can provide resources for genetic counseling. But there are some other companies that provide genetic counseling services, either self-referred or referred through a physician. They meet with a genetic counselor first to discuss different types of testing and whether or not they want testing. Then the genetic counselor coordinates the testing by sending kits in the mail, and then they see them again online to give them their results.
Those companies are actually growing. They're increasing in the number of genetic counselors that work with them, and they're growing in the number. I think genetic counselors are becoming more comfortable working in telehealth because of the COVID-19 pandemic and because now in training programs, we're teaching genetic counselors how to make the most out of a telehealth appointment, because you want to make sure the patient gets the same or equivalent care.
References:
- Genetic counselors. https://www.bls.gov/ooh/healthcare/genetic-counselors.htm. Accessed Jan. 5, 2023.
- Penn Medicine awarded $9.7 million from the Warren Alpert Foundation for genetic counselor continuing education efforts. https://www.pennmedicine.org/news/news-releases/2023/january/penn-awarded-grant-for-genetic-counselor-education-efforts. Published Jan. 4, 2023. Accessed Jan. 5, 2023.