Holly L Peay, PhD, MS, CGC
is a is a licensed, Certified Genetic Counselor and Senior Research Scientist at RTI International.
Can you tell us about your role working in newborn screening pilot studies at Research Triangle Institute (RTI)?
I’ve been at RTI for six years, and one of the reasons I joined RTI was the exciting newborn screening (NBS) research that was just beginning. Our primary NBS study is called Early Check
, a research study in North Carolina designed to:
- Develop and evaluate methods to offer free, voluntary screening for conditions not currently part of NBS to parents of the ~120,000 babies born in NC each year
- Acquire data to inform NBS policy and nominations to Recommended Uniform Screening Panel (RUSP)
- gauge parents’ interests in screening for new conditions
- develop and test feasibility of systems needed to implement screening
- provide services to screen positive infants
Early Check provides the foundation for an envisioned future in which states offer a voluntary panel of “non-RUSP” conditions using residual NBS.
Early Check provided screening for SMA between October 2018 and April 2021; FXS between October 2018 through today; and for Duchenne muscular dystrophy between November 2020 and today.
For me, the most interesting parts of Early Check are related to the large-scale nature of the research. How does one effectively, efficiently, and ethically consent hundreds to thousands of participants a month to a research study? How can results be returned at scale? How do we provide genetic counseling to families across the state? Working in the Early Check research study has allowed me to develop and evaluate an electronic consent approach, develop a tele-genetic counseling service, wrestle with challenging ethical issues, and lead a pilot of newborn screening for one of my long-term interests, Duchenne muscular dystrophy. Our current work includes planning for adding a sequencing panel to Early Check, which we (optimistically) plan to launch in the summer to fall of 2022.
What path did you take to arrive in your current role?
I’ve taken a very interesting path! I was a bioethics major in undergrad, which led me to my interest in genetics and genetic counseling, but also to a long-standing passion for empirical bioethics research. Early in my career my focus was on education (at NCHPEG) and providing psychiatric genetic counseling. My subsequent role at the NHGRI fed my appetite for social/behavioral research. I went on to get my PhD while also working at an advocacy group for DMD. I enjoy conducting a blend of bioethics and social/behavioral research, and most of my work is focused on the implementation of new technologies in clinical and public health settings.
What does an average day look like for you?
I lead multiple studies, so my average day includes working in different disease and research areas. I spend a lot of time on instrument development, data interpretation, and developing new tools and interventions such as decision aids. Much of my research includes community and stakeholder engagement, so on any given day I may be seeking input from patients, caregivers, clinician experts, and industry professionals. I particularly enjoy days that are focused on informed consent and other challenges in large-scale research.
What is the most rewarding part of being a genetic counselor who conducts research within or related to newborn screening pilot studies?
The most rewarding part is to be able to develop pilot studies, education and consent approaches, and genetic counseling and support services that directly impact those living in North Carolina. I am lucky to have excellent collaborators and co-workers, including several other genetic counselors at RTI. These individuals continually challenge me to find ways to put the needs of our participants first in our research.
The most challenging?
The most challenging aspect is the very fast pace of technological change that impacts NBS. Just imagine what the impressive drug development pipeline for rare genetic diseases, especially for gene therapies and eventually for gene editing, will mean for the NBS system. It’s challenging to stay abreast of these changes and to develop research studies that will be successful at informing the future NBS system.
What insights do you have for genetic counselors who work with families affected with the conditions screened in Early Check (i.e., SMA, Duchenne and Fragile X)?
We’ve learned a lot through conducting the Early Check study, but one area that continues to surprise me is the difficultly developing accessible educational content. I’ve spent a lot of my career creating educational content and yet it’s always challenging to write simple and accurate materials. Here is what I recommend to genetic counselors creating educational materials:
- Focus on what you consider to be the bare minimum content. You undoubtedly want to provide more detail than most people want or need.
- Look up and follow best practices in writing educational materials for lay audiences.
- Pilot test your content as much as you can. When I don’t have a budget to pilot test, I often ask middle and high school age children to give feedback (usually my children and their friends) recalling that most educational content should be written at an 8th grade reading level. Be creative!
Another learning from Early Check is the challenge that parents face when they have to make treatment choices very quickly, especially while also adjusting to a new diagnosis. SMA provides a good example of this challenge. Parents need a lot of education and emotional support in weighing the pros and cons of new treatments in light of a progressive and fatal (if untreated) condition.
Finally, as a field we need to continue to be careful about therapeutic misconception when it comes to clinical trials. Clinical trials are not intended to treat any child, and they come with risks and burdens. We cannot and should not assume that all parents identified through NBS pilot studies will have access to or want to consider participating in a clinical trial, and most importantly we should not assume that the child enrolled in a trial will experience any personal benefit.
What insights do you have for families considering participating in SMA research that includes the screening of newborns?
As with any research, parents need to understand the goals of the study, potential risks, and any potential benefits. For NBS pilot studies for conditions that cannot be treated asymptomatically, I encourage families to think about their own values and preference regarding knowing about a condition prior to symptom onset. The perceived utility of such information varies a lot among parents.
Where do you see research and treatment for SMA going in the next five to 10 years?
There are many exciting treatments in development or under clinical trial, including those based on gene transfer and gene editing. The continued development and approval of these therapies is likely to dramatically change the NBS landscape. The potential exists for exome or genome sequencing to be integrated into NBS and for the RUSP to greatly expand as disease-modifying therapies for many rare genetic conditions become available. We need research and deliberation among all stakeholders in NBS to develop and test new approaches to the conduct of NBS.
What advice would you give to prospective genetic counselors who are interested in clinical research?
Find experienced collaborators, start small, and take the time to learn research approaches and skills. Genetic counselors tend to be well positioned to conduct applied social/behavioral research and/or participate in clinical research teams. Clinical research requires skill sets that really well complement the skill sets already held by most genetic counselors.
ABGC Spotlight is a monthly series that features Diplomates, health care professionals
and students sharing their unique experiences with genetic counseling.