President’s Corner - Clinical Sequence Data
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I had mixed feelings upon reading the new Genome UK Plan. On the one hand, it was satisfying and pleasing to see firmly incorporated into the plan so many of the concepts (like for example disease prevention through genetic testing) that I and others have championed for so long. On the other hand, it was disheartening to realize how far the US is behind the UK.
If I asked the question what is the biggest obstacle in the US to widespread clinical genomic sequencing, I think most of you would respond that it is reluctance on the part of the payers, particularly health insurance companies, to cover the tests. While I certainly agree that payers are an obstacle, I don’t think they are the biggest. We are making slow, steady progress with the payers. I think the biggest obstacle is how to deal with the sequence data and accompanying clinical information.
As I pointed out in the PreventionGenetics 2018 Newsletters, we know that germline sequence information, particularly when coupled with clinical information, is exceptionally powerful. For the individual patient, it is fundamental for diagnosis, prevention, reproductive planning, and pharmacogenetics. For the clinical geneticist, it provides essential information for interpretation of sequence variants. For researchers, it provides the raw data necessary for the development of new drugs and software.
Here’s an excerpt from the UK Plan: “A single data repository for all genomic tests performed with the NHS (National Health Service) in England will provide a national genomic record for all patients that can be recalled and reanalyzed throughout their life to provide additional insights and patient benefits.”
I call for the creation of a similar data repository in the US. The repository should contain all genomic and all clinical data for all patients from birth to even after death. Creation of such a repository in the US will certainly be a monumental task, but the benefits to patients will be enormous. More about the American Universal Health Data Repository in future Newsletters.
Besides my advocacy, what can PreventionGenetics do to help achieve the goal of a universal data repository? Well, since this is the campaign season, PreventionGenetics makes the following pledges. I challenge our competitors to do the same.
1. PreventionGenetics has and will continue to save raw sequence data from all clinical tests indefinitely.
2. PreventionGenetics will not sell these data.
3. PreventionGenetics will transfer raw data to providers upon demand at no charge.
4. PreventionGenetics will transfer these data to a secure, regulated, centralized database when such a database becomes available.