Top 3 Challenges of Integrating Precision Medicine with Routine Care

Developing comprehensive infrastructure, technology

In order for precision medicine to succeed in healthcare, providers need the digital tools required to make sense of all the data that comes with these innovative techniques.

“Health systems will need to offer providers tools and systems that will enable them to make more informed decisions,” Geoffrey S. Ginsburg of the Duke Center for Applied Genomics and Precision Medicine and Kathryn A. Phillips of the Center for Translational and Policy Research on Personalized Medicine, UCSF School of Pharmacy said in a 2018 report.

“The health information technology community will need to design secure and interoperable genomics-enabled systems for actionable use in both healthcare and community settings.”

While artificial intelligence platforms have emerged as viable tools to enable the use of precision medicine, these technologies can also bring new challenges.

“Development of cutting-edge, new artificial intelligence and machine learning–based big data platforms has the potential to revolutionize the field of medicine and allow a high volume of data to be analyzed quickly. While this poses unprecedented challenges in data storage, processing, exchange, and curation, it will ultimately provide us with a better understanding of biology,” said Zeeshan Ahmed, director of the new Ahmed Lab at Rutgers Institute for Health.

Researchers are increasingly working to develop such analytics tools. A team at Northwestern University recently developed a precision medicine method enabled by artificial intelligence that could lead to the first biomedical screening tool for a subtype of autism.

“Our study is the first precision medicine approach to overlay an array of research and health care data—including genetic mutation data, sexually different gene expression patterns, animal model data, electronic health record data and health insurance claims data—and then use an AI-enhanced precision medicine approach to attempt to define one of the world's most complex inheritable disorders,” said study co-first author Dr. Yuan Luo, associate professor of preventive medicine at the Northwestern University Feinberg School of Medicine.

Provider education, training

As interest in commercial genetic testing rises among consumers, primary care physicians have increasingly had to put clinical context around patients’ test results. However, most providers have not had in-depth training in genomics or genetics in medical school.

In a recent perspective piece published in the Journal of Clinical Pathways, Joel Diamond, MD, a diplomat of the American Board of Family Practice and a fellow in the American Academy of Family Physicians, discussed how clinical leaders should embrace new standards of precision medicine.

“Many healthcare leaders find themselves in an unexpected situation: primary care providers (PCP)—rather than other specialists and subspecialists—increasingly have become the front line for genetic and genomic testing in their organizations,” Diamond wrote.

“Consequently, clinical leaders are realigning their precision medicine efforts to acknowledge the challenges and optimize the opportunities this paradigm shift represents.”

Additionally, a recent survey conducted by the Personalized Medicine Coalition (PMC), in partnership with the Blue Cross Blue Shield Association, Concert Genetics, and Illumina, found that while genomic testing is inconsistently utilized across the US, there are other barriers to adoption – including a lack of provider awareness and education about genomics.

“This important study highlights that increased adoption takes more than just favorable coverage policies. Creating awareness through partnership, education and outreach initiatives is an important step to ensuring people understand the power of precision medicine,” said Ammar Qadan, vice president of global market access, Illumina.

To advance the use of precision medicine techniques in clinical care, leaders and educators need to include genomics and genetics into training or medical school curricula.

“Increasing utilization will require a better understanding of the clinical and economic value of genomic testing that is equitably and easily accessed. This includes addressing socioeconomic determinants of health, as well as increasing genomics awareness and education for stakeholders across the health care system,” the authors of the survey stated.

Perpetuated care disparities and underrepresentation

While the benefits of precision medicine are well-documented, there is also great potential for these techniques to perpetuate existing care disparities and inequities that pervade the healthcare industry.

In a recent issue of UC San Francisco (UCSF) Magazine, researchers discussed the possibility for precision medicine to benefit certain patients more than others.

“The worst-case scenario is that certain populations will miss out – either because some precision therapies won’t work for those populations or because they’ll be unaffordable – and the gap between the ‘haves’ and ‘have-nots’ will widen,” said Hala Borno, MD, an oncologist and assistant professor of medicine at the UCSF Helen Diller Family Comprehensive Cancer Center.

In order to reap the benefits of precision medicine, the industry will need to resolve existing disparities.

“If we don’t get ahead of health disparities at the same time we’re developing these amazing precision technologies, we won’t have accomplished what we set out to do,” said Suneil Koliwad, MD, PhD, the Gerold Grodsky Professor at UC San Francisco’s Diabetes Center. 

A recent study published in Nature showed the impact of perpetuated disparities. The study found that a genetic mutation linked to blood sugar levels occurs in one percent of Hispanic/Latino people and about six percent of African Americans, but the mutation is rare in people of European descent.

“Our study confirmed that the apparent effects of the same genetic variant often vary across populations,” said Steve Buyske, a senior author and an associate professor in the Department of Statistics at Rutgers–New Brunswick. “A genetic variant with a big effect in people of European descent may have a smaller effect in other populations, and vice versa.”

To overcome this challenge, research organizations from across the country are launching projects to promote inclusivity in genomics. The All of Us program, an effort from NIH, aims to collect clinical, lifestyle, EHR and genomic data from at least one million diverse contributors to advance precision medicine.

“Today, much of our medical care is ‘one-size-fits-all,’ not tailored to the specific needs of the individual patient,” NIH Director Francis Collins wrote in a blog post.

“If we are to make the biomedical breakthroughs necessary to realize the full promise of precision medicine, researchers need a lot more data that takes into account individual differences in lifestyle, environment, and biology.”

Precision medicine has the potential to improve patient outcomes, care delivery, and disease research. Realizing the true capabilities of precision medicine techniques will require the industry to overcome issues with infrastructure, inequities, and knowledge gaps.