The spokesperson added that samples stored at Boston Childrenās Hospital would routinely have been destroyed if they were not part of active research over an extended period of time.
Boston Childrenās did not respond to STATās questions.
PGPās promises unfulfilled
In the end, it appears Epstein never had his genome sequenced through the PGP. Emails show that in June 2014, after Thakuria left the project, Epsteinās staff sent him a $2,000 check. An invoice indicated the payment only covered the costs of sequencing a portion of the genome known as the exome from two separate samples provided by Epstein ā a recently collected saliva sample and the fibroblast cell lines created the year prior under the PGP protocol. However, Thakuria was only ever able to send out the saliva sample for exome sequencing, according to subsequent emails. Epstein let him keep the remaining $1,000 as a āgift.ā
Still, the revelations about Epsteinās involvement in the PGP have come as a shock and a disappointment to some other participants, who say it underscores how the project has failed to live up to many of its lofty goals.
āIt makes me sad,ā one PGP participant told STAT. āIt nurtures this idea that the elites get to do whatever they want because they have money and they have access. And my naive or somewhat deluded view of the PGP was that it was supposed to be the opposite of that, it was supposed to be āgenomes for all.'ā
The PGP, now entering its third decade, never did get close to the 100,000 people Church once hoped to recruit. Of the roughly 6,000 people who volunteered DNA data to the project, fewer than 1,000 of them had a whole genome sequenced. The data it has so far amassed ā a noisy mix of different genetic data types with an even noisier array of health disclosures ā has proven of questionable scientific value. More structured sequencing projects like the UK Biobank and the NIH All of Us database have since far surpassed the PGP in terms of size and insights about genetic drivers of disease.
Its most significant contributions are arguably the cell lines produced by the PGP (including stem cells from Church himself), which have been used in an untold number of research projects, such as in the emerging field of brain organoids. And thatās all thanks to the novel consent structure of the project that made it easier to widely share cell lines created from participantsā blood and tissue samples.
From Ballās point of view, even if Epstein had never gotten involved with it, the PGPās legacy would still be a mixed one.
āIt played into what has seemed like an exaggerated belief in the power of genomes ā for transforming medicine, especially on an individual scale,ā they said. āAt the same time, it confronted issues that science had been shy about confronting. It helped push the dialogue forward and challenged the protectionism around people having access to their own data, as well as their capacity to accept an unknown risk in choosing to donate and share their genomic data publicly.ā