NEW YORK – Nonprofit contract research organization Southern Research is looking to genetic testing to identify patterns and risk factors that can be addressed in future healthcare initiatives, potentially influencing public health policy and preventive care programs and ultimately reducing health disparities.
The Birmingham, Alabama-based organization recently announced the Catalyst program, aimed at broadening access for Alabama residents to genetic testing for rare diseases, various cancers, cardiac conditions, metabolic disorders, and other common diseases. Southern Research has recruited precision health company MyOme and Boston-based Broad Clinical Labs (BCL) to help with testing and sequencing.
MyOme and BCL are collaborating on a novel method of blended genome-exome sequencing, a combined strategy for doing low-pass whole-genome sequencing and deep-coverage whole-exome sequencing, which the companies said is ideal for initiatives such as the Catalyst program.
Catalyst, which provides genetic testing for personalized health risk assessments free of charge to an estimated 20,000 to 30,000 Alabamians, is supported for three years by $25 million from the American Rescue Plan Act (ARPA). The state of Alabama provides $20 million of that total, and $5 million comes from the city of Birmingham.
ARPA is also known as the COVID-19 Stimulus Package and the American Rescue Plan. President Joe Biden signed the $1.9 trillion economic stimulus bill into law in 2021 to help speed up the country's economic recovery from the global pandemic and accompanying recession.
"The program is open to all Alabama residents, [but] we are trying to ensure access to rural and underserved populations, so we are heavily focusing our engagement efforts in those areas of Alabama," Khalilah Brown, VP of medical affairs at Southern Research and head of the Catalyst program, said via email.
To make sure that these groups are aware of the program, Brown said that Southern Research is working closely with local healthcare providers across the state. In particular, Southern Research is recruiting physicians, nurse practitioners, and physician assistants that specialize in primary care and women's health.
The organization is also conducting research into social determinants of health to better understand the broader challenges that may affect an individual's healthcare access, such as housing, food insecurity, and transportation.
"By collaborating with community organizations already addressing these social determinants," Brown said, "we are better able to connect patients with resources and services that can enhance their overall well-being. Our outreach is focused on going directly into the communities we serve, building relationships with local organizations, and ensuring our program fits into the existing fabric of support that these communities rely on."
Southern Research designed the Catalyst program and is responsible for its management and oversight. The nonprofit also recruited MyOme and BCL to assist with supplying tests, conducting sequencing, and delivering results. All data is then stored in a de-identified manner at the Center for Clinical and Translational Science (CCTS), run out of the University of Alabama at Birmingham. Data will be made available for anonymized population health research studies on the impact of access to clinical, biological, and social data on patient outcomes.
Participants in the program will have access to MyOme's full suite of tests covering single-gene disorders, polygenic risk scores, and pharmacogenetics. BCL will conduct blended genome-exome sequencing, and MyOme will return the resulting reports to patients and their providers.
BCL began experimenting with blended genome-exome sequencing last year and is currently running the service on its long-read Illumina NovaSeq X Plus sequencers. The method seeks to streamline sequencing for both common and rare variants related to monogenic and polygenic risk calculations.
The blended sequencing also enables the group to issue "not just PRS scores but also single gene scores and pharmacogenomics at costs that are accessible to the general public," said Premal Shah, CEO of MyOme.
BCL advertises its blended sequencing service for research as beginning at $99. A spokesperson for the company said that a clinical blended genome-exome product with a technical report starts at $150 per sample.
Results will be accessible through a portal built by MyOme to facilitate this research. In addition to accessing sequencing results, patients and providers will also be able to connect with MyOme's genetic counselors.
"Access to genetic counselling is critical and needed anytime you return genomic testing," Shah said.
Genetic counselors are in short supply nationwide, and Shah commented that Alabama in particular does not have enough. At least partly in response to the nationwide shortage, some researchers have begun studying the use of chatbots to fill in gaps in patient access.
Shah said that PRS reports included in the program currently cover coronary artery disease, breast cancer, and type 2 diabetes, but that the company intends to include more indications as the program progresses.
"The future of healthcare is one in which everyone gets an accurate risk assessment across all therapeutic areas … including single genes and PRS scores for all conditions," Shah said, adding that accurate risk estimations are fundamental to the success of other emerging technologies, such as multi-cancer early diagnosis (MCED) and GLP-1-based therapies, such as the blockbuster Ozempic (semaglutide).
Brown said that at the conclusion of the Catalyst program's three-year grant period, Southern Research will evaluate its impact and scalability in order to determine next steps.
"There is certainly room for extension and expansion, contingent on the outcomes and the identification of new funding sources," Brown said.
Even before the program's conclusion, however, Brown said that Southern Research is actively exploring opportunities to expand the Catalyst model to other states, particularly in underserved regions where genomics-based healthcare might have a transformative effect.
"The findings from the Catalyst program will serve as a critical foundation for future research in genomics and public health," Brown said.