I was honored to be invited by Illumina to speak at their Consumer and Healthcare Genomics Summit in Bangkok on May 8. Illumina had assembled an eclectic group of their experienced customers as well as vendors that provide value-added applications for genomics. It struck me, that although we are all working toward the same goals, the approaches we follow were unique to the culture and healthcare paradigm that we each operate within.
An overwhelming theme of the meeting is that consumer genomics is far ahead of other genomic applications, with over 24 million tests ordered to date. There is innate interest in understanding your DNA, but we were reminded that this curiosity was activated by a tremendous amount of marketing dollars. In 2016 alone, AncestryDNA.com spent over $100 million and 23andMe over $20 million.
While ancestry research has become the “killer app” for genetic testing within the US, there has been relatively less interest outside the US, likely because our heritage as an immigrant nation spurs a desire to rediscover our roots. Among other consumer genomics companies, the quest for relevance is a driving force and the “worried well” are an important audience. MapMyGenome, Genique, IndusHealthPlus and TheGeneBox in India, Genesis Healthcare in Japan, Codigo46 in Mexico, MyDNA in Australia provide a range of applications for improving wellness for people taking a proactive approach to their health and wellness.
Some of the global companies focus on applications that appeal to a narrower interest group or cultural proclivity. Muhdo leverages the data-driven habits of elite athletes to develop an application for documenting and improving physical performance. Imagene Labs offers a product to improve skin care for an image conscious market in Singapore. Dr. Min Seob Lee of Diagnomics discussed the concept of creating an App Store to enable consumers to order specialized reports once a clinical test has been performed.
There were also examples of public investments toward improving public healthcare with genomic applications. Dr. Lili Milani of the Estonia Genome Project described an impressive effort that spans research activities as well as projects to make genomic data available in the medical records of all citizens. To date, they have used sequencing to create a reference genome for Estonians and are on track to genotype over 150,000 citizens or 10% of their population.
Dr. Surakameth Mahasirimongkol of the Thai Ministry of Public Health showed a powerful video that illustrated progress that they are making to avoid adverse drug events caused by inappropriate use of carbamazepine. The Ministry is making further investments to determine cost-effective uses of genetic testing to improve population health. In the private sector, the director of research for Bumrungrad Hospital, Dr. Tee Viangteeravat discussed their offering of genetic testing for optimizing health. Bumrungrad is rated as one of the ten best hospitals in the world and they see genetic testing as an important innovation that will help distinguish them for medical tourism.
An important goal for clinical genetics is to develop screening tools that enable testing to have a significant impact on routine clinical care. One approach is to look for clues in individual genomes that will help guide early diagnosis and treatment of common diseases. Professor Peter Visscher of the University of Queensland is working to improve polygenic risk scores for a range of conditions.
One of the challenges of risk scores is actionability. Some feel that if a change in behavior is required for a risk score to be actionable, then the value is limited because motivating behavioral change is difficult. A counter example to this is the potential for genetically guided prevention protocols to have a substantial effect on healthcare costs. For example, if a woman is screened earlier for breast cancer because of a reliable risk score, then an incidence of cancer may be caught earlier when it is cheaper to treat, and when the treatment is more likely to be successful.
The end goal of all symposium participants is to move to a world where genetic testing evolves from novelty to necessity for the average consumer and healthcare provider. Toward this end, Stephen Kearney is working with Hannover Reinsurance to develop a reinsurance market for genetic information. The point is that there is asymmetry in knowledge between the insurer and the insured because the latter potentially has more information about their genetic tests (note it is difficult to feel much sympathy for the insurance companies). By introducing a reinsurance market for diseases that may be predicted by genetic testing, insurance companies will be able to limit their risk of offering insurance to otherwise uninsurable populations.
The overarching theme from Illumina is that the consumerization of genomics is driving new opportunities across all applications of the technology. For researchers, lower testing costs and the availability of access to larger datasets provide new opportunities to explore and improve predictive analytics. For consumer-focused companies, industrialization of large-scale arrays creates an inexpensive foundation for a wide range of value-added applications. For clinical uses, a greater focus on testing and validating clinically relevant variants creates an opportunity to make genomics more central to healthcare by moving from purely diagnostic to screening applications.