Last month marked 17 years since the Human Genome Project, an international research effort to determine the DNA sequence of the entire human genome.1 This historic achievement is due to the groundbreaking work of past researchers like Gregor Mendel, Watson and Crick, and many others. Their work set the stage for today’s personalized medicine wonders including genetic testing and pharmacogenomics. Pharmacogenomics is the study of how genes affect a person’s response to drugs.2 While there has been significant progress in this field, much more is needed. Let’s review where we are at today.
Rise of Genetic Testing Kits
Direct-to-consumer genetic tests have blossomed over the past few years, with companies like AncestryDNA and 23andMe dominating the market. Despite their millions of users, interest in genealogy has begun to slow over the past year. As a result, some companies have shuttered while others have tried to reinvent themselves through a focus on health predispositions and population health.
Some companies continue to focus on the direct-to-consumer market and/or have attempted to integrate and support clinical practice, like Genomind and GeneSight. While these companies focus exclusively on mental health, others may focus their efforts solely on research and development.
Typical costs for genetic testing vary between $100 and $350 depending on the depth of analysis and information provided. It is up to each individual provider whether tests are covered by insurance.
Guidelines from Major Health Organizations
The US Food & Drug Administration (FDA) has approved almost 300 drugs with biomarkers as part of drug labeling across 19 therapeutic areas. Most of these products are in oncology, psychiatry and infectious disease.
The Office of Public Health Genomics at the Centers for Disease Control and Prevention provides a toolkit for areas of focus that have significant potential for positive impact on public health. The toolkit is based on available evidence-based guidelines and recommendations and currently includes three areas in which nearly 2 million people in the US are at increased risk for due to genetic mutations:3
Hereditary Breast and Ovarian Cancer Syndrome — increased risk for breast, ovarian, tubal, peritoneal, and other cancers due to mutations in BRCA1 or BRCA2 genes
Lynch Syndrome — increased risk for colorectal, endometrial, ovarian, and other cancers associated with mutations in mismatch-repair genes
Familial Hypercholesterolemia — increased risk for heart disease or stroke due to mutations leading to very high cholesterol levels from an early age
The Clinical Pharmacogenomics Implementation Consortium (CPIC) currently provides guidelines for more than 200 drugs and more than 300 genes categorized into four areas: testing required, testing recommended, actionable pharmacogenomics, and Informative pharmacogenomics.4
How is National CooperativeRx Using This Information to Help?
National CooperativeRx leverages our industry expertise, analytic capabilities and clinical knowledge to continually explore and vet potential programs and services on behalf of members. The drugs noted in the CPIC guidelines represent about 7% of drug spend, 20% of prescription claims and 40% of utilizers. A cross reference of CPIC-applicable drugs and categories to pharmacy claims data show some products are more cost-effective than others when compared to test costs. In many cases, trial and failure of multiple low-cost agents may prove more practical, though not always the most efficient or clinically-sound approach.
Genetic testing and the application of biomarkers are typically incorporated into prior authorization processes by pharmacy benefit managers. They are routinely evidence-based on FDA-approved indications and current clinical guidelines, especially for higher-cost specialty medications. Last year, the American College of Rheumatology added a multi-biomarker molecular blood test to its list of recommended disease activity measures for rheumatoid arthritis which can help guide therapy selection, predict disease progression and improve outcomes.5
Where We Are Headed
The broader application and use of personalized medicine are currently limited by several factors:
- Potential cost effectiveness
- The ability to store and retrieve this information from medical and/or pharmacy records
- Health care professionals may lack appropriate training and clinical application of information
- Privacy concerns for consumers and patients
These obstacles will eventually be overcome, and it will only be a matter of time before genetic testing and pharmacogenomics become the “new normal.” As pharmacogenomics develops, health care providers will be less reliant on trial and error medicine, the patient experience will improve and there will be a corresponding reduction of waste in pharmaceutical spend.
- https://www.genome.gov/human-genome-project
- https://ghr.nlm.nih.gov/primer/genomicresearch/pharmacogenomics
- https://www.cdc.gov/genomics/implementation/toolkit/tier1.htm
- https://cpicpgx.org/
- https://www.healio.com/rheumatology/rheumatoid-arthritis/news/online/%7B5793a2cf-e86c-40e1-9b0c-088910975474%7D/acr-adds-vectra-test-to-recommended-ra-activity-measures
