Guest post by Brianne Kirkpatrick, MS, LGC, genetic counselor.
Genomics research and genealogy have been dating for a few years now, and it seems that 2015 was the year they finally took their vows. With the growth of interest in tracing familial lineages — genealogy being the second-most favorite hobby reported by Americans — the technologies created for searching historical records of families are available instantly, with a mouse click or a screen swipe. Engagement in family history collection and availability of commercial DNA testing for ancestry are galvanizing the general public alongside the growth of genomics databases in research and industry. Growing interest in uncovering ethnic roots and genetic family has opened the doors for novel research projects, leading to a new cohort of willing and able participants.
Some readers might already be familiar with the DNA.Land project, a non-profit partnership between New York Genome Center and Columbia University. DNA.Land is accepting raw genotype data files from participants who were able to obtain these files by purchasing commercial ancestry testing. Unaffiliated with the testing companies themselves, DNA.Land provides a re-analysis of the computerized genotype data and provides additional tools, such as a participant-matching database and ethnicity estimate. This research project provides an opportunity for ancestry testers to share their data not necessarily intended to serve a health or medical purpose, in a way that helps to advance genomic health discoveries. In turn, participants are assured they “will be able to connect with the scientific community and learn more about their genome for free, including information about ancestry and relatedness to other individuals on the site.” A win-win scenario for researchers and participants.
Genes for Good is another project flourishing in this burgeoning niche. Genes for Good provides interested test-takers a research-based alternative to the commercial market for ancestry testing. Based at the University of Michigan, the project engages research participants through a Facebook app, providing them with an ancestry test spit kit after completion of online health surveys. In April 2016, Genes for Good announced on its blog having surpassed the 10,000 participant mark, an impressive turn-out for a project only 16 months old. Clearly, both ancestry testing and online genomic health research are of interest to researchers utilizing online methods for recruitment and members of the general public interested in online participation.
Another project recently funded by the rare disease advocacy organization, Global Genes, takes a different approach to the marriage of genealogy and genomics. This grant provided to United Mitochondrial Disease Foundation (UMDF) will employ techniques in genealogy to identify individuals at risk for Leber’s Hereditary Optic Neuropathy (LHON). The study aims to promote recognition of and support for those at risk for LHON, an inherited mitochondrial disorder that can cause sudden onset legal blindness, usually in late teens or early adulthood. “Genealogy is an important pathway by which people carrying a LHON mutation can be made aware of their risk of sudden legal blindness,” explained Lissa Poincenot, LHON Advocate. A professional genealogist utilizes open sources of genealogical data to track down living relatives along maternal lineages of affected individuals. The next step is to warn unaware “DNA cousins” of their potential risks for LHON, and to offer genetic counseling and information about clinical trials for the condition. This unprecedented approach to identifying at-risk individuals at a point that treatment and intervention may possibly stall or prevent genetic disease is exciting, and explores a path that may benefit other disease groups in the future.
Accurate family history and documentation of relationships is critical to genomics studies. Thanks to the ability to compare and confirm relationships using DNA, we can expect increasing accuracy in connecting individuals with their genomic and health data, and with one another. Whether scouring paper trails or the bonds between individuals at the molecular level, however, surprises sometimes happen. As a genetic counselor and private consultant to ancestry test users, I have seen this happen.
When we look more closely at family ties, we sometimes discover that the expected family relationships based on paper and the family narrative do not always align with genetic relationships. In DNA, for example, evidence of incest or other sources of close relatedness can be identified by data analysis tools, sometimes for those who had no awareness or suspicion of this. A more common scenario is the uncovering of misattributed parentage, whether non-paternity or non-maternity (think undisclosed adoption or assisted reproductive technologies). The uncovering of half-siblings and other unknown relatives is happening as a result of match-making databases that utilize ancestry test results, and sometimes these revelations occur in public ways. It is because of this possibility that we must all remember whenever we test DNA, we are dealing with people who have feelings, not simply base pairs or data points. “Family” is complicated, and individuals who are considering or have chosen participation in research may come from complicated family arrangements. They may have different desires for protection, privacy, and needs for sensitivity, for reasons that may or may not be evident to those on the outside espousing the benefits of sharing genomic data.
Even so, in my experience those who discover unexpected or “bad” news often express they are still glad to know the truth about family relationships, even if the path to the discovery is painful. Truth is paramount to many, and knowing accurate relationships is critical to an accurate assessment of genetic health risks. I, like many, am hoping to see growth in the niche of genealogy and genomics research, along with increased utilization of genetic counselors in the space. Like all relationships, it is best to expect there will be some bumps on the road on the path to a lasting marriage.
ABOUT THE AUTHOR: Brianne Kirkpatrick, MS, LGC, is a genetic counselor, writer, and founder of WatershedDNA.com, a private tele-consulting practice for cases involving home DNA testing and raw genotype data interpretation. Prior to founding her own consulting practice, Brianne was involved as a researcher at Geisinger Health System and lead coordinator of ClinGen’s GenomeConnect.org online registry for phenotype and genotype collection.