On October 28th, the U.S. National Human Genome Research Institute (NHGRI) released “The Future of Genomics: 10 Bold Predictions,” a video looking at the most exciting genomic advances (related to human health) to come over the next ten years. It’s a must-watch.
Genomics is the study of all of a person’s genes (their genome), including how their genes interact with each other and with a person’s environment.
The NHGRI, as an institute of the NIH (National Institutes of Health), is focused on the role of genomics in human health and disease. Working with key members of the genomics community, the NHGRI recently published its strategic vision in Nature.
With hope and anticipation, the NHGRI boldly predicts that by 2030:
Genome sequencing will be commonplace.
The role of all human genes will be known.
The impact of environmental factors on our genome and disease risk will be understood.
Genomics will move away from using social constructs like race in human research studies.
Hands-on genomic research will begin in elementary school.
Genomics will be used in everyday medicine.
The significance of all genetic variants related to human disease will be clear.
Genome sequencing data will be stored and accessed on our smartphones.
Genomic discoveries will benefit everyone in society equally.
Genomics will reveal cures to many genetic diseases.
The next decade will revolutionize how humans interface with their genes. Helping to study this relationship is where we, at SoundRocket, come in.
A job for social science research
If genome sequencing (i.e., reading a person’s whole genetic code) is to become commonplace, an understanding of genomic concepts will be necessary for everyone involved. Innovative educational approaches to share genomics knowledge must be available, engaging, easy to understand, and adaptable. Additionally, the ethical and societal implications of genomics must be explored.
Social science research will allow society to:
Examine and track perceptions, attitudes, comprehension, and acceptance of genomic testing.
Drill into issues such as privacy and genetic discrimination.
Reflect on the societal change as we address inequitable access to genomic testing, healthcare disparities, and a lack of diversity in research.
At SoundRocket, we will continue to play a growing role in studies that will bridge the gap between genomics and society, which began with our first related survey project in 2012.
That first study, funded by the NIH/NHGRI, was called The Impact of Personal Genomics (PGen) (R01-HG005092). In the PGen project, we helped our collaborators (at universities in the U.S. and Canada) measure consumers’ reactions to genetic risk information for common diseases. Read more about our involvement with the PGen study in two previous blog posts (Soundrocket as data collection partner, SoundRocket partners with academics and industry).
The PGen study led SoundRocket to conduct user comprehension studies for genetic test manufacturers as they pursued FDA 510(k) authorizations to market direct-to-consumer genetic tests. See more about these efforts below.
SoundRocket has continued our academic collaboration in this field with the People Seq Consortium (R01-HG009922), another NIH/NHGRI-funded study, looking at the medical, behavioral, and economic impact of performing genomic sequencing in healthy adults. Read more about the People Seq study in this recent publication.
The Role of User Comprehension
Comprehension of genomic test reports will be essential to ensuring the NHGRI predictions are realized effectively.
Physicians will need to understand how to best integrate genomic results in medical care. Evidence-based clinical guidelines, decision support tools, and user-friendly risk-stratification and prevention algorithms will be crucial to ease genome sequencing into mainstream medicine in a practical way.
FDA Authorized DTC Genetic Tests:
23andMe carrier screening
23andMe genetic health risk
23andMe cancer predisposition (BRCA1/2, MUTYH)
23andMe Pharmacogenomics (2018, 2020)
AncestryDNA genetic health risk
FDA Authorized DTCDNA specimen collection kits:
For the general population, education modules and genomic test reports need to be clear, understandable, curated, and relevant to the reader. Communications must reduce the risk of confusion and misinterpretation. Currently, in the FDA’s oversight of direct-to-consumer genetic testing, test manufacturers must submit data demonstrating that consumers clearly understand the meaning of their results.
At SoundRocket, we have refined and perfected the user comprehension study for regulatory purposes. Our methodology includes iterative, interview-based stages designed to help genomics companies develop test reports that are easy to read, navigate, and understand (and reach the 90% comprehension threshold set by the FDA). In 2020, we have successfully adapted our methodology to accommodate the reality of doing research during a pandemic and have emerged with a design that we believe is superior. We’ve used this process for education modules, too, substantially improving the clarity and comprehensibility of these (often dense) educational tools.
While the NHGRI recognizes that most of these predictions are unlikely to be fully realized in the next ten years, the list is meant to be inspirational and provocative, to engage interest and strike up a conversation. SoundRocket is listening.
Stay tuned for a future post with a deeper dive into three of the NHGRI’s predictions. We will expand our thoughts relating to a) genome sequencing being commonplace, b) genomics in everyday medicine, and c) genome sequencing data stored and accessed on our smartphones.
Jill Furnival is a certified genetic counselor and science writer based in Toronto, Canada. When she’s not helping people better understand genetics, you may find her walking her dog, or in downward dog! She joined SoundRocket in Fall 2020 to consult on user comprehension studies for the FDA authorization of direct-to-consumer genetic tests.