In the age of precision and personalized medicine, life science companies can develop treatments designed to target almost any patient’s specific illness. However, a lack of genetic research on underrepresented populations can lead to a decline in the quality of care they receive. Furthermore, researchers may be missing out on key genetic discoveries if they only ever work with highly homogeneous samples. In order to increase diversity in genetic sampling, researchers should work to build trust within communities and be prepared to share any benefits. Gathering a wider variety data will help to bring effective personalized medicine to as many markets as possible while opening the pathway to product discoveries.
Why It’s Important
By increasing the diversity of samples in genetic testing, scientists can access genetic variants more common in those with certain ancestries in order to gain a more comprehensive awareness of a specific gene functions. This research has the potential to improve pharmacogenomics, pinpoint disease biomarkers, and to lead to a better understanding of the factors responsible for polygenic diseases. For example, analysts found a mutation on the PCSK9 gene more common among people of African descent that can lower cholesterol. Since this mutation is extremely rare among those of European descent, there is a chance the scientific community could have missed out on this discovery without a broad range of profiles.
Those of European descent comprise less than a fourth of the world’s population but more than three-fourths of the genetic data collected so far. This fact should serve as an impetus for researchers to gather samples from people of other ethnicities in order to create more robust data sets. Improved data sets can also help researchers find treatments for diseases more common in specific ancestry groups, such as Sickle-cell anemia or Alpha/Beta Thalassemia. This data could also improve the accuracy of risk determinations for polygenic diseases for more people, since these tests are currently less accurate for people with non-European descent.
While it would be difficult to discuss every reason behind an overall lack of diversity in genetic sampling, there are several factors that present more direct barriers. For example, the Human Genome Project used samples from Buffalo, NY, a city with mostly white inhabitants. Most published genomic studies come from just one of three countries: the US, the UK, or Iceland. Furthermore, injustices done to specific communities in the past in the name of medical research still impact people today. Economic inequality as the result of a long history of racial discrimination also mean that fewer people of color may be able to leave their jobs or travel to an inconvenient location in order to give a sample.
Efforts to Increase Diversity in Genetic Sampling
All this considered, the NIH, the FDA, and some private companies have taken steps toward increasing the genetic diversity among their samples. The NIH created the All of Us research program as part of the 2016 Precision Health Initiative with the goal of creating a database with over one million profiles to reflect the population diversity. Both patients and researchers will have broad access to this data.
In June 2019, the FDA released guidance about how to enhance diversity in clinical trials. Some of those principles could apply to obtaining genetic samples as well, including paying attention to where a site is specifically placed within a general location and offering evening and weekend times to accommodate diverse work schedules.
Direct-to-consumer genetic testing company 23andMe has obtained 26 million profiles as of February 2019, and approximately 80 percent of costumers have allowed their information to be entered into the general database. The company has found further success by partnering with pharmaceutical companies to give them access to anonymized customer data for R&D. They’ve realized that filling in the gaps in genetic research adds more value to their data both for their partners and the consumers themselves. With this in mind, the company created programs to give researchers free kits to use among underrepresented groups in the US and in Africa. 23andMe has tried to consider the complexity of the situation and has done their best to partner with locals when working to obtain samples in other nations.
As life science companies think through the importance of increasing diversity genetic sampling, there will be many considerations about how to obtain the profiles in such a way to benefit the most people. By partnering with community champions and listening to the questions and concerns from people within underrepresented groups, companies are more likely to gain the trust of individuals. With innovative approaches to traditional practices disrupting all sides of the industry, life sciences leaders are realizing returns in patient engagement, treatment efficacy, and cost efficiency by moving towards patient-centric models that show a deep and committed understanding of the individual.
Providing more education about genetic testing may be necessary in order to obtain a truly informed consent. Additionally, companies should ensure that those providing information derive any the benefits from the research as well. Obtaining diverse samples in a thoughtful way can lead to better personalized medicines to give an advantage to both patients and life science companies alike.
Coauthor and contributions by Sabrina Zirkle