In my practice, I have seen a sharp rise in the number of patients asking about genetic and genomic tests. Healthcare consumers are drawn to the idea that this information can unlock answers to persistent health problems, or reveal risk for future issues. And a proliferation of accessible, affordable testing has whet their appetite for much more.
Different flavors: Genetic testing vs. Next Generation Sequencing
Many people have experienced genetic testing. These tests look at single nucleotide polymorphisms, or SNPs (pronounced "snips"), which are common variants in a single base pair. Results of these tests might indicate that they have the taste for bitter coffee, or have ancestors from West Africa, or are carriers for Cystic Fibrosis.
These tests are appealing to consumers because they are easy to find and relatively inexpensive. Search the web, and you’ll find hundreds of companies offering personalized medicine based on DNA data to design your perfect diet or exercise program, for example.
Unfortunately, this segment is fraught with “snake oil” connotations. The Federal Drug Administration (FDA) has previously halted sales of some DNA test kits over concerns about medical claims and how consumers might interpret health results.
Certainly, large population comparisons of linked SNP data will help advance science, but many of my patients have felt that their experience with genetic testing was little more than a parlor trick.
Next Generation Sequencing (NGS) can be much more comprehensive. Whole genome testing includes all 3 billion nucleotides or base pairs. More practically, exome testing includes only the part of our DNA that codes for proteins. Despite surprisingly consisting of only about 2% of the entire genome, it accounts for over 20,000 genes and contains over 85% of disease variants known today.
3 trends to watch as consumers drive precision medicine into the mainstream
As a physician, I see great promise in genomics and precision medicine to enable smarter, more precise care, especially through our 2bPrecise clinical-genomic solution. Consumer interest is growing, which brings new challenges and opportunities into the physician’s office. Trends include:
1) Belief in the magic bullet. I’m seeing more and more patients who believe precision medicine will be the cure and key for every health issue, especially when diagnosis or treatment is difficult.
There is ample reason to hope, but it is up to the physician to educate consumers and set realistic expectations. There are multiple factors that have a bigger impact on health than genetics. Patients are concerned about familial inheritance for diseases, when environment and lifestyle often have a greater influence.
2) Prescriptive patients. We’re going to see more consumers demand specific courses of treatment, based on the genetic or genomic information they have. For example, someone who finds out she is at risk for cardiovascular disease may request a stress test. Physicians will need new kinds of educational support to assess and stratify risk.
3) Data outpacing science. Genomic knowledge is growing at an exponential rate, at times generating more questions than answers for researchers and physicians. We recognize many variants in DNA codes, but don’t yet know what they all mean.
The area between genes, the way the gene folds itself, the protection capabilities of genes – these are areas that are not fully understood. The science is still young and as more consumers pool their data, through efforts such as the Precision Medicine Initiative Cohort Program (recently renamed the All of Us Research Program), we will be able to determine greater numbers of genetic and genomic associations.
I believe that consumers are going to drive the growth of genomics and precision medicine, faster and more efficiently than organized medicine ever could. The explosion of data, combined with hope and promise, will only continue to accelerate.