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Spanning Science and Clinic

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From his perch as scientific director of the Harvard Partners Center for Genetics and Genomics, Raju Kucherlapati has a bird’s eye view of how translational research is rolling out in academic medical centers. Genome Technology caught up with him to find out how the meeting of the basic science and clinical worlds is going.

Genome Technology: Where in the clinic will genomics have the first impact? Why?

Raju Kucherlapati: I think the places where it’s going to have the greatest impact is that such information is going to help us make a clinical decision — and those clinical decisions are known [to have], or would predict that there would be, a significant positive outcome for the patients.

GT: What’s the hardest part of the transition to clinical or translational research for basic scientists?

Kucherlapati: People who do basic science have to have the right types of collaborations to be able to do the translation. For somebody who is at an institution that does not have a hospital associated with it, for example, it would be very difficult to translate [research] to patient care. So you need to have a place where a basic scientist would be able to talk with physician-scientists or clinical scientists — that obviously restricts it to those academic medical centers where both kinds of people are together. It is also possible for people to be able to establish collaborations with clinical scientists. I think that’s one of the most important things: to have a conversation between the basic scientists and the clinical scientists.

GT: At your own center, where are you seeing the most clinical impact from this kind of science?

Kucherlapati: For making treatment decisions, there are a number of different areas. Cancer is most attractive, so that would be the first place that you can make decisions and extend the lives of people. Then in all of the pediatric disorders, the ability to diagnose disease is in many instances dependent on being able to do a genetic test — and the diagnosis of course dictates the nature of the treatment that those patients will receive.

The difficult ones are the ones where you can make a diagnosis or you can make a prediction, but there’s nothing much you can do about it. Those are probably the ones that are much more difficult to accept and adapt rather than the ones where some immediate decisions can be made based upon the information.

GT: There’s a lot of money and effort going into translational research. Is there a clear path forward, or is this another case of throwing lots of resources at a problem and hoping something works?

Kucherlapati: People have been making arguments that the amount of healthcare dollars that we spend for diagnostics is not very high in proportion to the healthcare dollars that we spend for therapies. They argue that that ratio must change. To make a case as to why more of the healthcare dollars should be spent on diagnostics, I believe that you have to provide evidence to support the view that testing is ultimately beneficial for the patients.

[There’s] the most recent example of the anti-HIV drug from Pfizer that I understand is currently at the FDA awaiting its approval. In that particular case, they have worked together with a diagnostics company, so the drug development and the diagnostic went hand in hand. That’s an excellent example as to how they work together.

With the existing drugs I think that already some of the things that the FDA has done for certain types of drugs — changing the labels and indicating that genetic testing would benefit the patients — obviously that’s based on a significant amount of evidence.

The Scan

For Better Odds

Bloomberg reports that a child has been born following polygenic risk score screening as an embryo.

Booster Decision Expected

The New York Times reports the US Food and Drug Administration is expected to authorize a booster dose of the Pfizer-BioNTech SARS-CoV-2 vaccine this week for individuals over 65 or at high risk.

Snipping HIV Out

The Philadelphia Inquirer reports Temple University researchers are to test a gene-editing approach for treating HIV.

PLOS Papers on Cancer Risk Scores, Typhoid Fever in Colombia, Streptococcus Protection

In PLOS this week: application of cancer polygenic risk scores across ancestries, genetic diversity of typhoid fever-causing Salmonella, and more.