Women in Philanthropy Meeting Focuses on Precision Medicine, Genetics, and All of Us Research Program

Women in Philanthropy Meeting Focuses on Precision Medicine, Genetics, and All of Us Research Program

PA Foundation Women in Philanthropy recently held its first quarterly meeting of 2022 and welcomed Sheri Schully, PhD, and Nguyen Park, MS, PA-C, DFAAPA, for a presentation about “Women’s Health: Incorporating Precision Medicine into Practice.” Schully and Park talked about genetics and genomics; the National Institutes of Health’s (NIH) All of Us Research Program; and how PAs can get involved in genetics and the groundbreaking All of Us program.

“If you combine the 7,000 rare diseases in the United States, actually 1 in 10 Americans has a rare disease,” explains Park, who was the first PA chosen for the NIH-American College of Medical Genetics Fellowship in Genomic Medicine Program Management. “[In some cases], if you make the diagnosis early on, you can change the entire trajectory of a patient’s life.”

The All of Us Research Program aims to recruit 1 million or more participants from different backgrounds to learn how biology, environment, and lifestyle affect health and to build one of the most diverse health databases in history. Because genetics and genomics studies have historically focused on European, Caucasian, and male populations, one of the program’s goals is to provide insight about genetics and disease within communities that have been historically underrepresented in research.

“Our mission is to accelerate health research and medical breakthroughs and to enable individualized prevention, treatment, and care for all of us,” says Schully, Deputy Chief Medical and Scientific Officer with the All of Us Research Program.

The Basics

Park, who is the founder and president of the Society of PAs in Genetics and Genomics, began her presentation with a refresher on biology and key terms including genes, genetics, and genomics. Genetic testing occurs throughout the lifespan, with newborn screening being one of the most successful public health programs. “More than four million newborns are screened annually in the United States and thousands of infants are rescued from disability and death, making it one of the most effective and widely used genetic screening tests,” says Park, who has practiced in cardiology, nephrology, and environmental medicine.

Genetics is also a main component of precision medicine, which takes each person’s genes as well as their environment and lifestyle into account when preventing and treating disease. “Precision medicine is a radical shift in how each of us can receive the best care based on our unique makeup and not just as a whole population,” says Schully.

Case Studies Show the Importance of Genetics

Both Schully and Park provided case studies to illustrate the power of precision medicine and genetics. First, Schully shared a story about a 57-year-old woman who was admitted for care due to chest pains and prescribed Clopidogrel, a blood thinner; she subsequently had five interventions and nine stents put in her body over the next year.

Then this woman went through genetic testing. The results showed she has a genetic variant that was not allowing her to properly metabolize Clopidogrel. She was then prescribed a different medication, Prasugrel, and has had amazing outcomes ever since. “We could have stopped this whole year of constant treatments for her had we done genetic testing up front,” Schully says.

Park’s case study showed how important it can be to have a provider who takes genetics into account. Park’s sample patient, age 35, was experiencing severe abdominal pain, nausea, vomiting, and diarrhea, and had a family history of Fabry disease. This lysosomal storage disorder is a risk factor for kidney disease, cardiomyopathy, stroke, and even death. The patient had experienced symptoms of Fabry disease for years but was never diagnosed because women were thought to be asymptomatic carriers of the disease.

She then went to a PA who decided to refer her to a metabolic genetics clinic. There, the patient discussed three generations of her family history and received a thorough physical exam. This care – along with global research through the Fabry registry, which showed that women who have a positive family history of the disease actually do experience symptoms – led to the patient’s diagnosis after years of suffering. As a result, she was finally able to get treatment in the form of enzyme replacement therapy.

“Imagine going [through years] with all these symptoms and nobody can figure out why you’re having them,” says Park, adding that earlier treatment for Fabry disease correlates with less organ damage. “We’re making a huge difference in patients’ lives.”

Opportunities for PAs in Genetics Abound

PAs are well-versed in taking rich personal and family health histories and are “perfectly poised to practice precision medicine,” Park affirms. They can start by thinking about genetics within their own practices, even though it might seem unlikely they will treat patients who have been diagnosed with rare diseases. And, she adds, the opportunities are growing.

Park says she expects there to be positions opening for genetically-minded PAs within newborn screening programs, which are primed for expansion; pediatric offices, which could use support caring for young patients who have been diagnosed with life-long conditions through newborn screening; and primary care offices, which could see an increase in patients who need help interpreting direct-to-consumer genetic testing results. Specialties like OBGYN and psychiatry could use the expertise of PAs who are knowledgeable about pharmacogenomics.

PAs might also consider working directly in medical genetics, helping to expand access to care and alleviating the national shortage of medical geneticists.

In any specialty, PAs can talk to their patients about the All of Us Research Program, enroll themselves or their family members, or get involved in research through the All of Us Research Hub.

The All of Us Research Program

Thus far, the All of Us Research Program has enrolled approximately 475,000 participants who have completed various steps of the process. Eighty percent of participants are women and 50 percent are racial and ethnic minorities, showing that the program is meeting its goal of gathering information from populations that have been historically underrepresented in research.

To collect a range of information from participants – including environmental, biological, clinical, social, and behavioral data – All of Us has a protocol in place. Participants may consent to release their Electronic Health Record (EHR); answer surveys about their lifestyle, health access, family medical history, and social determinants of health; provide physical measurements; submit biosamples, including blood (or saliva) and urine; and share data from wearable fitness devices like the Fitbit.

This data is available through the All of Us Research Hub, which launched in November 2019 and has three tiers of access. Through the public tier, which is open to everyone, researchers can explore data types and plan their research questions. The next two tiers include the registered tier, which contains de-identified individual-level data, and the controlled tier, which includes genomic data and additional demographic information.

Although still in progress, the All of Us Research Program has already made a big impact: Genetic data on the Research Hub includes 100,000 genomic sequences, of which 50 percent or more are of non-Caucasian decent. This has led to discoveries of new genomic variants. “We’ve actually found 593 million unique variants. This is huge,” says Schully, adding that All of Us has about 50 partners in this effort, including the American Academy of PAs and the PA Foundation.

PAs who are interested in participating in the All of Us Research Program or who want to share this program with their patients can visit joinallofus.org/together.