Wendy Rubinstein

Wendy Rubinstein

“If we’re clever enough to have sequenced our genome, then is it really too much to find ways to cooperate to understand sequence variations?”

Wendy Rubinstein is Senior Scientist at NIH/NLM/NCBI & Director at the NIH Genetic Testing Registry. As the first medical geneticist at NCBI, Wendy informs policy decisions at the HHS Level for Genomic Medicine, directs the NIH Genetic Testing Registry, and champions ClinVar. In the FLG Magazine Wendy looks at why getting genomics to physicians’ desks is proving so problematic.

There is a fabulous video of a Rube Goldberg machine made of magnets and marbles. It is a good analogy for the complex landscape of genetic testing. The brilliant contraption reminds me of all the steps it takes for a genetic test to be thought of, selected, ordered, performed, covered by insurance, interpreted, and used in a care plan. However, there is an important difference. The magnet and marble machine is a contorted, nevertheless effective, path to a goal. Genetic testing sends marbles flailing out at every step and the goal of better health is not so assuredly attained. We all ought to try to do something about this together.

Like many others, I’ve embraced a reductionist approach to problem solving – I trained in biochemistry, practiced specialty medicine as a clinical and molecular geneticist, and now work in NIH’s developer shop, NCBI. Walking through our building’s conference center on the way to my office, I regularly see dozens of posters dissecting scientific questions into their lovely minutiae. Increasingly though, I feel queasy looking at the posters and wonder, how are we going to put Humpty-Dumpty back together again?

Most complex problems need to be teased apart. But here I’m going to call out what I believe are central problems in genomic medicine and suggest some solutions, while acknowledging that fixing one part at a time just won’t work. Specifically, 1) we need physician engagement; 2) we must leverage clinical information for better test selection and interpretation; 3) we need to streamline test ordering and insurance steps; and 4) we must capture and share computable information – including clinical outcomes – globally and across the continuum of care. These problems are intertwined, so developing solutions will require many stakeholders to join under a very large tent. Taking a deep dive into one aspect of these imposing problems, as we do in our professional lives, just isn’t enough. I’m hoping you will contribute to building a tent that fosters a comprehensive solution…


Read on to see Wendy explain the current pathway to evaluating a child with congenital heart malformations, and her take on what a more ideal pathway could look like. Turn to page 20.

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