Direct-to-Consumer Genomics Requires Top-Notch Sample Management
Direct-to-consumer genomics, as used in personalized medicine, aims to provide customers with precise health care information based on individual genomic data. The strategy is a powerful conceptual leap, but necessitates absolute confidence in individual sample integrity, identity and quality. Brooks Life Sciences’ Sample Management Solutions enable such certainty.
When the first personalized genomic kits appeared on the market, direct-to-consumer genomics seemed destined to quickly revolutionize the way health care was executed, by allowing a shift of the initiative from doctors to patients. People were now able to order genetic tests, including those providing pharmacogenomic and oncogenomic information, from commercial entities, without involving a health care provider. Enthusiastic patients quickly became much more active in their own health care efforts. 1,2
Ancestry testing based on individual genomic information has since enjoyed a major gain in popularity, and more than 12 million people have already had their genealogy characterized via direct-to-consumer genomics tests. 3 However, personalized pharmacogenomic and oncogenomic tests encountered several challenges, including possible misinterpretation of test results by consumers, 4 doubts about test accuracy and statistical significance, and reservations regarding sample management, sample quality and chain of custody. Consequently, the FDA requested oversight of direct-to-consumer genomics tests, 5 causing a severe restriction of growth of the industry. 6 However, the model remained attractive, and a reversal of initial skepticism by the FDA is now illustrated by the recent approvals of direct-to-consumer genomics tests predicting risks for a variety of diseases. 7,8
Obviously, direct-to-consumer genomics, whether providing personalized ancestry information or personalized data related to health care, must earn unmitigated trust by consumers that the information obtained stems from their individual sample, and that the sample has not experienced conditions that would hamper the quality of the test results at any point. Such perfected records of a sample’s chain of custody and a guarantee of sample quality is at the heart of Brooks Life Sciences’ Sample Management Solutions.
With our team of dedicated clinicians and scientists and a pipeline of technological solutions, we offer support to personal genetics companies through specific sample collection kits, experienced logistics management, sample management and processing solutions, data analysis tools, and sample storage facility oversight. In all sample management processes, we follow Good Clinical Practice. A recent blog entry describes our sample management technologies and methods in more detail. The main goal of Brooks Life Sciences’ Sample Management Solutions is to identify the right strategy for each investigator or company, at the right cost, while maintaining a perfect chain of custody, condition and identity for every sample.
An important global aspect in direct-to-consumer genomics is the fact that not all samples are of the same quality. Many research groups, particularly those involved in developing personalized medical treatments based on genomic information, collaborate across the globe. Consequently, the biological samples that are used to produce the data needed for linkage analyses or to formulate treatment options are often collected in different facilities around the world, within widely different environments and complex logistical challenges. This variation has important consequences for the downstream analyses, and is often overlooked. At Brooks Life Sciences, our products, services, and technologies are all designed to minimize variability through exceptional global logistics. For example, our algorithms facilitate harmonization of samples of variable quality, and our logistics team works diligently towards minimizing customs challenges and selecting the most efficient means of transport.
With proper oversight, more test transparency and statistical accuracy, and guaranteed sample quality and authenticity, direct-to-consumer genomics will undoubtedly take the flight that it had been expected to embark on at inception. Recent estimates predict the direct-to-consumer genomics market to triple in the next four years. 9 We at Brooks Life Sciences are proud to contribute our expertise to this exciting field, and look forward to serving all participating companies and investigators, whether they are already shaping this emerging market, or are about to enter this industry. The overall goal, enabling customers to make more informed and better health care choices, is worthy of our best efforts in sample management and remains at the forefront of our philosophy.
To learn more about Brooks Life Sciences Sample Management Solutions, watch the video below.
- Carere DA, VanderWeele TJ, Vassy JL, et al. Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study. Genet Med. 2017. 19(5):537–545. https://www.ncbi.nlm.nih.gov/pubmed/27657683.
- van der Wouden CH, Carere DA, Maitland-van der Zee AH, Ruffin MT, 4th, Roberts JS, Green RC, Impact of Personal Genomics Study Group. Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Ann Intern Med. 2016. 164(8):513–522. https://www.ncbi.nlm.nih.gov/pubmed/26928821
- Regalado, A. 2017 was the year consumer DNA testing blew up. MIT Technology Review. 2018. https://www.technologyreview.com/s/610233/2017-was-the-year-consumer-dna-testing-blew-up/, accessed Apr 9, 2018.
- McGrath SP, Coleman J, Najjar L, Fruhling A, Bastola DR. Comprehension and data-sharing behavior of direct-to-consumer genetic test customers. Public Health Genomics. 2016. 19(2):116–124. https://www.ncbi.nlm.nih.gov/pubmed/26950077
- US Food and Drug Administration Letters to Industry. 2010. https://www.fda.gov/MedicalDevices/ResourcesforYou/Industry/ucm111104.htm, accessed Apr 9, 2018.
- Filipski, KK, Murphy, JD, & Helzlsouer, KJ. Updating the landscape of direct-to-consumer pharmacogenomic testing. Pharmacogenomics and Personalized Medicine. 2017. 10, 229–232.
- US Food and Drug Administration. 2018. FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes. Press Release. https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm599560.htm, accessed Apr 9, 2018.
- US Food and Drug Administration. 2017. FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions. Press Release. https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm551185.htm, accessed Apr 9, 201
- Kalorama Information. The Market for Direct-to-Consumer Genetic Health Testing. https://www.kaloramainformation.com/Direct-Consumer-Genetic-Health-Testing-11370673/, accessed Apr 9, 2018.