That digital health technologies will be adopted to address the ills of healthcare systems around the world is a foregone conclusion. The challenges of the cost of chronic disease burden, physician and patient dissatisfaction While awareness of digital health is being created with technologies like patient scheduling apps and telehealth video conferencing, a potentially more profound game changer, genomics is rarely injected into the conversation. The potential benefits of genomics lie in areas of both public health and disease treatment. Before genomics becomes an integral part of population health management, there remain fundamental prerequisites yet to be realized. As a disclaimer I have no financial interest in any commercial entity this post mentions or links to.
- Education of providers. There are only approximately 4000 (Nov. 2014) certified genetic counselors in the USA. A recent study reveals that educating medical students in genomics is woefully lacking. Only 26% of schools in the USA and Canada teach genomics during clinical training years. An interesting study examining awareness of direct to consumer genetic testing found very few primary care physicians knew about and/or were prepared to discuss it. While physicians know the potential benefits of genetic testing for some diseases, they might not be in favor of it to the point of having their own genome determined.
- Awareness by ALL healthcare stakeholders. There is lively debate over payment for genetic testing. While there is widespread consensus with regards to testing of certain cancers, there are many issues to be considered with general screening. The company 23andme was stopped by the FDA two years ago from providing health reports based on genetic testing it did for consumers. However, it has found new success partnering with ancestry.com and pharmaceutical companies Pfizer and Genetech. Although it had to shift business models, the company is bringing awareness via these other channels to multiple healthcare stakeholders. This is yet another illustration of patients as consumers. Patients should also be aware that the lack of identification of a sought-after gene of a disease might not be an absolute negative test. The disease (or predisposition thereof) might be on an heretofore undiscovered associated gene.
- Scaling the technology. This is not as much a function of the technology itself as it is of awareness and identifying opportunities for the clinical utility of derived data. The day when genomic analysis is done at home and applied in a meaningful way is going to come. Information garnered from such testing not requiring a genetic counselor might consist of a recommendation to discuss with a physician dosing or other changes of a medication regimen. It might be a virtual assistant suggesting that a family member being screened. Scaling this type of technology can result in targeting certain patient populations for new treatments (the consumer can opt-in or out for these protocols) via widespread sources such as social media or EHR charts.
- Development of tools and solutions. There are many potential clinical spokes emanating from the genomic wheel. Consider the alteration of genes of other species to facilitate organ donation or drug development based on population genetics. Pharmacogenomics involves the identification of biomarkers which can predict non-responders to medications and people prone to adverse reactions. Implications of these biomarkers have made their way to drug labeling by the FDA. The use of EHR-derived data for applications related to genomics is intriguing. Advantages of EHR-derived data for genetic research include the magnitude of data, low-cost, and the ability to follow it over time.
- Policies and regulations preventing abuse. It is natural to think that there is potential for discrimination against someone due to a genetic test resulting in the identification of genes diagnostic of or having the potential for developing a disease or significant clinical abnormality. What comes to mind is a potentially lethal or mental illness. This issue has been addressed to some degree for some time now. The government has, via the Genetic Information Nondiscrimination Act of 2008 made it illegal to discriminate against a person in the areas of health insurance and employment based on findings from a genetic test. However, there remain other instances of potential discrimination. Consider life insurance, long-term care insurance or disability insurance which are not covered by the GINA. In addition, there are other drawbacks to undergoing genetic testing to consider.
Genomics is now on the national radar and was recognized in a Presidential speech earlier this year. The potential for huge strides in early disease (or pre-disease state) identification and treatments is clear. Challenges remain in multiple arenas, but I consider the biggest ones the shortage of genetic counselors, insurance payment issues (I know of insurance companies who require a genetic test to qualify patients for a new cholesterol-lowering medication but won’t pay for the test!), and need for more education/awareness of all healthcare stakeholders. I look forward to genomics becoming a larger part of medical education, water cooler talk, and the investment landscape in digital health!