Dr Stephen Kingsmore Describes the Participants of the BeginNGS Consortium


The consortium involved in the newborn genomic sequencing initiative consists of a diverse and growing selection of stakeholders.

The objective of the BeginNGS newborn genomic sequencing initiative isn’t simply to provide an evaluation limited to today's medications; instead, it's a dynamic assessment, constantly evolving to remain applicable to each emerging curative treatment entering the market, Stephen Kingsmore, MD, DSc, president and CEO, at Rady Children's Institute for Genomic Medicine, explained. To do this, Kingsmore implemented a consortium of stakeholders.


Can you discuss the significance of involvement of various stakeholders in the BeginNGS Consortium?

Rady Children's Institute for Genomic Medicine is tiny, we have about 90 employees. We're part of a big hospital, which has 6500, but we have way too few people and represent way too few constituencies to do something as ambitious as reinventing newborn screening for the US, and the penny dropped on that.

On day one, we realized, if we're serious about this, we need to have a very broad coalition. We need to be listening to all kinds of people and opinions because otherwise, we'll never be successful. So from the get go, we set it up as a consortium. We have at least 30 participant organizations so far, and that will double, triple, or quadruple with time.

So, we have focused on 4 different constituency groups. First of all, we need to buy technology partners–a lot of this is technology–so we have half a dozen organizations that build sequencers, bioinformatics, or electronic medical systems. We need those. Second of all, we needed advocacy organizations.

There are many, many organizations related either to individual genetic diseases of childhood, or sets of genetic diseases. A great example is the National Hemophilia Association. So we have more of those, but we need to add 50 or 100 more so that really we're listening to the voices of parents and advocates.

Thirdly, we have academics, obviously, we need folks who do clinical trials and we're adding to that roster. We have representatives from about half a dozen academic organizations. We have other stakeholders, either governmental or state, or public health system, or the American College of Medical Genetics and Genomics.

And lastly, and this one may be surprising, but it makes total sense when you think about it. We have the pharmaceutical industry. If we do this without the pharmaceutical industry, we will be playing catch up for the rest of our lives. We'll always be chasing the new drugs. If we involve pharma from the get go. We will understand their pipelines. We'll know what they're building, what targets they're after, and we will be able to preempt that.

So, in our design, the goal is not just a test for today's drugs. It's a test that will be what we call adaptive and what that means is it continues to adapt. It continues to be relevant to every new curative therapy that comes to market. Pretty exciting, right?

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