The Complicated User Experience of Genomic Discovery, and What’s Next

Feb. 23, 2016
As physicians are approached more frequently than ever before about genetic counseling, what education tools do we have in place to keep them up-to-date on the newest genetic research?

It was the billion-dollar project 10 years ago: As early-adopting consumers became more comfortable with the idea of managing their own data, they started asking for increased amounts of personal and complicated data from scientists. Where do I come from, genetically? What disease risks do I have? What can I do to lower those risks?

And thus, the consumer genomics and self-discovery industry was born.

Today, genomic discovery has really started to come into its own as a consumer tool. As W. Gregory Feero, M.D., PhD, of the Maine Dartmouth Family Medicine Residency, wrote on the CDC’s Genomics and Health Impact blog about the 2015 American Society of Human Genetics (ASHG) meeting, “ASHG, which has typically focused on discovery science, had much more of a feel of clinical application [this year].”

During the past year, an inflection point has been reached within the genomics community­—the focus has shifted from scientific research alone to something that looks more like precision medicine. Now, a consumer can have access to that once-billion-dollar project for a fairly manageable cost of around $199 per genetic test, generally not covered by insurance. Services like 23andme, now valued at over $1.1 billion, are quickly moving to the front of the consumer product line in this vein, allowing consumers to directly request personal information about heredity, genetic predispositions for disease, and more, all gathered from a simple cheek swab and at a low cost. Research projects, too, seem to be trending toward work that feels more preventative and consumer-based—at least according to perceptions of the last ASHG conference.

Within this exciting inflection moment, though, problem areas have cropped up when it comes to user experience. Fantastic and complicated genetic information is now available to everyone. But interpreting that complicated data for consumers who know little about the nuanced field has proven to be a struggle. As physicians are approached more frequently than ever before about genetic counseling, what education tools do we have in place to keep them up-to-date on the newest genetic research? And what user experiences are needed for patients who are now able to look at their possible risk areas and complicated genomic maps, all on their own devices? To create an engaging experience that is both unique for the individual and informative without being overwhelming, genomic discovery companies must focus on building streamlined and effective digital programming around genetic information. This is more important than it’s ever been before.

Rebecca Lord

A common genomic discovery experience usually begins in the office of a consumer’s primary care physician, or in a consumer’s own home. All genetics companies (except for 23andme) require that consumers work with their physicians directly if they want access to genetic information. But, by in large, lessons on genomic sequencing are rarely a part of a physician’s traditional training. This has led to something of a bottleneck in the process: many patients report instructing their primary care providers about which pieces of genetic information they’d like to focus on, and why, rather than the physician advising on the process. Additionally, the consumer must also wait for the physician to receive the data and interpret it for them, often receiving modulated information about pieces of information that have been deemed important through literature, but might not be most relevant to the consumer personally.

This bottleneck is the reason for services like 23andme, which has notably removed the physician-required step in this process, allowing consumers to receive and interpret their data by themselves through digital experiences. 23andme, called “the startup world’s newest unicorn” by Fortune earlier this year, is currently the only U.S. Food and Drug Administration-(FDA) approved company on the market that can sell genetic tests and results directly to consumers. Their tests require only a saliva sample, and then they produce a lengthy digital report about a consumer’s genetic health risks within eight weeks. Today, the company is FDA-approved, supporting millions of customers, and sending digital reports that reveal information about certain inherited conditions and diseases right to consumers’ inboxes. They provide little analysis beyond the list of reported risks; that must happen at a physician’s office, according to the FDA.

This brings up another question: those digital reports. Some companies present physicians and consumers with entire genome “browsers,” but these can be difficult to navigate. Where do I go for the information I want? What does this specific piece of information mean, and do I care about it? What information is medically actionable for me, specifically? And how does this connect with data from the rest of the population? Even for physicians, weeding through hundreds of data points, or even lists of conditions, can be a difficult puzzle.

Add this to the fact that revealing health risks without causing panic for the consumer is incredibly important (this was largely the reason behind 23andme’s original FDA-approval issues, and behind the requirement that they eliminate “analyses” from their reports). With the amount of data currently being produced, a consumer could see 56 disease states with a proven number of variants on their genomic browser. By next year, this browser might contain 112 disease states, due to improved research. It is important, then, to build an experience that explains to folks that the information they see represents just a snapshot in time; more research is always needed.

Realistically, genetic testing companies should consider three key things when revealing genetic information to physicians and consumers. First, the experience should be easy to navigate and digital so that the consumer wants to come back again and again for updated information as science progresses. Second, the appropriate dissemination of the right information to the right people at the right time is key. And third, the information provided should be understandable for a consumer with a sixth grade education, using language and graphics that are accessible to people from many walks of life.

Today, we have more access to data than ever before. But now that we have information readily available for consumers, user experience is really the last mile in genomic discovery. I believe that it is far less important to consider what it feels like to hold the genome in the palm of a consumer’s hand or the screen of their iPad, and much more important to consider what that genome actually means for someone’s future, life, and children.