Genome-based testing is encountering growing pains. In both clinical and consumer realms, test adoption first soared and then, to some extent, sputtered. The idea behind these tests was simple: to use information encoded in each person’s unique DNA to help everyone understand his or her disease susceptibility, drug response profile, and more, in order to improve health and allow for the early detection or even prevention of disease. If the obstacles facing mainstream use of these tests cannot be overcome, the remarkable strides anticipated for precision medicine could be cut short as well.
Even as the number of genomic tests used in healthcare rises, a new study from the nonprofit Personalized Medicine Coalition reports that clinical adoption has been inconsistent across the U.S. That’s been driven in part by variations in insurance coverage, in how much testing has been utilized for specific healthcare issues, and inconsistent awareness among physicians who would be the ones to order the tests. Analysts for the coalition reviewed state-by-state test utilization and reimbursement policy data for genomic tests used in prenatal testing, rare disease, and oncology. They found uneven insurance coverage across states, but also noted that even when reimbursement levels had improved, it did not necessarily lead to more adoption of tests in cases where they would be medically relevant. Within states that had good reimbursement coverage, high utilization of one genomic test — say, for oncology — did not correlate with high utilization of other tests.
“Coverage levels vary widely between states and are inconsistent across clinical areas, in some cases changing year to year. This suggests a coverage policy landscape that may be confusing for [healthcare providers],” the PMC report states. Other challenges the report says could be stifling test adoption include regional disparities in access, the need for education about genomic medicine, socioeconomic inequality, and more. “Increasing utilization will require a better understanding of the clinical and economic value of genomic testing that is equitably and easily accessed,” the study concludes. “This includes addressing socioeconomic determinants of health, as well as increasing genomics awareness and education for stakeholders across the health care system.” Those are significant challenges, to say the least.
Meanwhile, in the sister field of direct-to-consumer (DTC) genetic tests, the biggest providers have restructured or laid off employees this year, citing shrinking demand. 23andMe, the company that largely launched the consumer genetics industry, announced in January it would lay off 100 people — nearly 15 percent of its staff — while fellow DTC provider Ancestry also laid off about 100 employees. Last year, Helix, a company built with the goal of becoming a consumer genetics marketplace, said that it would restructure, shuttering two of its four offices and refocusing its business on healthcare facilities.
This follows several years of strong growth in the DTC area. According to a blog that tracks the consumer genetics market, demand for these tests really began to grow by early 2016. By this summer, Ancestry had sold DNA-based tests to more than 17 million people, while 23andMe had some 10 million users in its database. The tests’ cultural impact has also been significant. Many people have identified lost or unknown relatives, for instance, and genetic genealogy and health issues have often become a topic of social conversation.
Though these companies have struggled recently, some are seeing new opportunity outside of the consumer genetics area: Ancestry was just acquired by Blackstone for $4.7 billion after investing in health diagnostics. Helix, which is now investing in delivering results to health systems or research organizations, recently retooled its lab facilities to perform high-capacity testing for COVID-19.
But those developments don’t address the underlying issue of DTC genetic tests–that the genomic results offered by these companies have apparently not been compelling enough among consumers to secure steady profitable demand. The recent downturn in demand for consumer genetics has been blamed on everything from privacy concerns to a saturated market. But one clear component is that not enough users seem to find their results interesting enough, or actionable enough, to encourage others to take the same tests. Even many veterans of the genetics industry — those most likely to be able to understand their results without assistance — have told me they have been disappointed or confused by the reports they received.
Part of the reason consumers fail to find their results useful is that they don’t have a genetic counselor guiding them. In fact, many people do not take advantage of genetic counseling that is made available, and test providers increasingly worry that consumers don’t fully understand the results they receive, potentially to the detriment of their health. For instance, people often believe that getting a negative result for, say, genetic risk of developing heart disease means that they no longer have to worry about getting heart disease. A genetic counselor would clarify that genetics is just one factor of overall risk; negative results by no means guarantee a lifetime without heart disease.
As scientists learn more about the associations between our genetic code and its effects on health and disease, genome-based tests will offer more and more information that could prove instrumental for preventive care, earlier detection of illness, and tailor-made treatments. But these tests have been seriously buffeted by current market forces. For all the benefits they might offer in healthcare, their future use will depend on how well they overcome lower-than-expected demand, uneven insurance coverage, and the fact that too few people know enough about them.
