Not so long ago, ‘genetic testing’ only existed in the hollows of diagnostic laboratories. Results were shared with the clinicians, who relayed the outcome to the consumer. There was a process to be followed, leaving the consumer last to know.
Today, DNA analysis has become a powerful predictive, personalized, and accessible tool for everyone. And thanks to technological advancements, these tests are easily making their way into the hands of consumers, allowing people to become “masters of our own destiny.”
The potential of predictive data is significant for both consumers and clinical teams. Clinicians can tailor prevention and treatment strategies to each individual, while also identifying potential problems early on, such as a predisposition toward developing a certain disease. Consumers are empowered to take a more proactive role in their health by collaborating with physicians to create the necessary lifestyle changes and treatment plans to mitigate risk. This data not only leads to a more informed population but also empowered consumers who will direct more of their own care.
The deluge of genomic data brings great opportunity to make a meaningful impact on the health of populations across the globe. Just think, if this data can accurately predict trends and disease states, the possibilities could be endless.
Barriers remain to reach the full potential of genomics testing.
Before we get ahead of ourselves, let’s review where genetic testing is today. The healthcare ecosystem is gathering more data from DNA than ever before. For example, direct-to-consumer genetic test kit 23andMe has secured consent from more than 1 million consumers to use their data for further research. And a conscious effort is being made by healthcare organizations to systematically analyze that data, introduce it into clinical care for the consumer benefit, and then track and evaluate outcomes. While all signs point to a positive result, a number of challenges hinder the true potential of genetic testing.
- Genetic testing doesn’t always spur action.
Genetic testing isn’t a physician mandate. Rather, the majority of consumers choose genetic testing out of curiosity to look to better understand their genetic makeup and future risk. Yes, genetic testing has the potential for better risk assessment, diagnosis, and treatment of many complex diseases. However, knowledge doesn’t always translate to action. Direct-to-consumer testing does not require consumers to discuss results and determine a course of action with a physician or genetic counselor. There is currently a gap between receiving the information from a genetic test and making it actionable for the consumer.
- Lack of access to resulting preventive treatment impedes the ability to mitigate disease.
While genetic testing can alert consumers of their risk for diseases, it’s the action consumers take that holds the promise. A predictive genetic test may reveal a consumer is at risk for a certain type of cancer, and therefore indicate the need for increased cancer screenings. Unfortunately, health plan coverage of preventive screenings varies, creating unequal access to potentially necessary interventions and thereby limiting consumers’ risk mitigation.[1]
- Genetic testing may lead to ethical dilemmas.
Genetic tests have limitations. Not every test identifies every possible gene mutation for a particular condition. Or they may have limited predictive value, prohibiting accuracy. Additionally, not all conditions identified have a clear medical prevention plan. For example, a test may reveal a consumer is at higher risk for developing Alzheimer’s disease, yet no effective prevention exists in order to combat it.
Industry influencers making genetic testing possible.
Despite the challenges surrounding genetic testing, there is an effort being made to expand its usage and value. The following organizations are just a few that are working to make genetic testing more affordable and accessible for all.
- 23andMe: Through an at-home saliva collection kit, 23andMe analyzes hundreds of thousands of variants in an individual’s genome and reports back on how these variants could be linked to certain health conditions, traits, and ancestry groups. Late last year, the company set out to conduct the most comprehensive study yet to discern the links between people’s genes and dieting success.
- Tempus: A technology-based company, Tempus is building the world’s largest library of molecular and clinical data and making the output accessible and useful for physicians to deliver more personalized cancer care. Most recently, the company announced that it launched a new genome sequencing panel to revolutionize the targeting of tumors.
- Orig3n: Providing consumers with access to personalized health and wellness DNA tests, Orig3n empowers individuals to take charge of their health. With 19 DNA tests ranging from fitness and nutrition to behavior and beauty, Orig3n provides users with actionable insights related to their unique genetic blueprints at an affordable price point, ranging from $29 to $149.
- Verily: The Alphabet research arm is developing tools, such as watches, smart lenses, and adhesive patches, for monitoring and capturing critical health information. Most recently, the company announced it has discovered a way to predict a person’s cardiovascular risk factors by analyzing the tissue at the back of an individual’s eye.
- Color: Leveraging advanced technology, Color allows consumers to understand their genetic risk for hereditary cancers and disorders and then work with a genetic counselor to create a personalized health plan. Today, Color and Peninsula Cancer Center are offering tests to consumers to determine if they’re at risk for certain hereditary cancers. If results show risk, those individuals are notified of advancements in prevention and treatment.
The opportunities genomics testing can unlock.
There’s no doubt the age of personalized medicine is upon us. Genetics data is advancing research and changing healthcare by empowering consumers to take control of their own health. Data provided by testing has the unprecedented ability to target treatments and prevention based on individuals’ preferences, and their individual genetic makeup. With the influx of data collection and analysis, researchers, physicians, and companies are unlocking trends to determine how to treat certain conditions. Improvements in these analytics tools are necessary so providers can seamlessly create prevention or treatment plans based on this wealth of information.
As we continue to make strides with genomics, we also grapple with the decisions these findings require the healthcare industry and consumers to make. At HLTH, stakeholders from within and at the fringes of the healthcare ecosystem will come together to share strategies and approaches for most effectively harnessing the predictive power that genetic testing provides.
Join us in discussing the impacts of genetic testing as we pave the way forward in improving the life of the consumer and the health of our overall population.
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[1] Prevention for those who can pay: insurance reimbursement of genetic-based preventive interventions in the liminal state between health and disease, Journal of Law and the Biosciences. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4555880/
