Genome sequencing has now become almost ubiquitous in clinical research and soon will be in personal health treatment. Yet being able to do the personal genomics analysis of a person who already passed away has not been discussed to date. Following the process of sequencing myself and my family 8 years ago, we embarked into the quest of understanding our personal genomes to the greatest extent afforded by direct to consumer genetic testing. After having sequenced the 2% of the genome encoding for our genes, we are now in the process of sequencing our whole genomes. This would not be so unusual if it wasn’t because one of the individuals to be sequenced, my aunt, passed away 4 years ago. Why have we decided to sequence her genome?
In 2011 myself and my family, included my aunt, decided to put our personal genetic raw data for public download on the internet. The reason for doing this ‘unheard of’ action at the time was to increase the chances of knowing more about our personal genomes. No single genome interpretation service is able to provide a complete picture of what is known, so we figured that if we get as many people as possible analysing our genomes, we will have the most complete understanding to date about or health risks and ancestral traits. At the time there was very little open access genome data and less so from a whole family. Having the genomes of a family is more useful for research because we can learn how traits were inherited. My family was the first to make their genomes available for public download. We did this in the most open way possible, publishing the data under a public domain license (CC0). This meant that scientists and companies alike would be able to use our genetic data for their studies and not have to worry about permission issues: the data was on the web in the public domain and they would not be liable for any use they made of it. So we put our genome data for public download, requesting that if users found anything interesting, we would appreciate if they fed to us the observations. This led to an unexpected response from more than 20 scientists and 7 companies from around the world. The results of the combined analysis were compiled into a publication that came out in BMC Genomics (1). It was one of the most influential articles that journal published in 2015.
Despite having done the analysis of the 2% of our genomes that encode for our genes, we now want to perform the analysis of our whole genomes. For that it is essential to have as much genome data from family relatives as well as ours. We will perform the analysis on the 4 living members of my immediate family and also add the whole genome analysis of my deceased aunt. With her husband’s approval, we retrieved 36 hair roots of her hair from a used comb and have now proceeded to the purification of her DNA, despite she having passed away four years ago. A picture of her retrieved hair is below.
We are conscious that DNA testing of deceased individuals has been done for forensic studies in the past. However, we are unaware of any direct-to-consumer personal genomics testing of a deceased relative for the purpose of understanding someone else’s genome data. We expect that our aunt’s genome will contribute to the understanding of our family genomes but we also believe that this will raise tremendous ethical, legal and social questions, including the ascertainment to which it is licit to sequence the genome of a person who passed away, even if her spouse accepted. Is it thus justified to sequence a deceased person’s genome to learn more about the health conditions of living relatives? How much can we learn from an analysis like that? We know that these questions are not clear yet, but hope to shed light on them. Our intention, like we have done before, is to make all our genomes and results publicly available and citable. Given the amount of results and data that we have already collected with previous analyses, we will be in a great position to understand the extent to which we can learn the most about our health and ancestry using direct to consumer genetic testing.
Because it is absolutely essential to have as much genome data in order to be able to understand genetic illnesses, this issue of making the genomes of the deceased available for research purposes perhaps should be discussed further. As the number of people being sequenced increases, should the genome and clinical data of the deceased be available for research? Who would hold the granting permission to share that data and what would be considered accepted practices for it?
- Corpas M, Valdivia-Granda W, Torres N, Greshake B, Coletta A, Knaus A, et al. Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics. BioMed Central; 2015;16: 910.
Particular thanks to Samuel Benavides (http://www.mingobioinformatics.com/ for the handling and help with the sequencing of the sample.