Clinical OMICS

MAR-APR 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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DAME KAY DAVIES, Ph.D. Oxford University March/April 2019 Clinical OMICs 27 medicine. We are engaging payors to understand their concerns and continuing to perform clinical studies to build further evidence for the power that genomic sequencing offers to save lives and lower healthcare costs. One study our team published last year in npj Genomic Medicine showed rapid whole-genome sequenc- ing increased the rate of clinical utility to 31% compared with 2% for standard genetic tests. In six of the infants diagnosed in this study, the changes in care management reduced inpatient costs by $800,000 to $2 million. What is your vision for the future of precision medicine/genomics? Kingsmore: Our vision is in the next few years, ultra-rapid whole genome sequencing will become a first-tier diagnostic test for infants and children hospitalized in intensive care units with diseases of unknown etiology. More importantly, our vision is to see a decline in infant mortality within the next five years, as children in intensive care units receive timely precision medicine. ANNIVERSARY ISSUE What are the most significant advances in preci- sion medicine over the past five years? Davies: The resurgence of gene therapy after the Jesse Gelsinger tragedy 20 years ago and other setbacks is very gratifying, both for the researchers and physicians who have been pursuing this precision medicine and especially the patients. We are seeing genuine progress in CAR-T therapies, muscular dystrophy and eye dis- ease gene therapy. Gene replacement is working and newer methods using gene editing (CRISPR, zinc finger nucleases, and megaTALENs) are reaching the clinic at last. I would also mention the diagnosis of rare diseases. For exam- ple, a program at the Sanger Institute where next-gen sequencing in up to 30% cases leads to the identification of the causative mutation, which at the very least leads to better management. How has your work supported these advances? Davies: My lab continues to develop approaches for the treatment of Duchenne muscular dystrophy. Through a variety of complementary approaches, including gene therapy, small-molecule regulation of gene expression, and gene editing, there is more hope than ever that treatments for these devastating disorders will soon emerge. We engage in several national or international collaborations, particularly EU frameworks. What are the biggest challenges and/or opportuni- ties that lie ahead? Davies: I would say the pricing of precision medicine is top of the list. Companies should be compensated for the heavy investment required to bring these drugs to market, but current drug pricing trends, especially for rare diseases, are unsustainable. In addition, access to genetic testing and the chronic shortage of professional genetic counselling is challenging. On the plus side, exciting opportunities include the screening of all preg- nancies to eradicate most rare diseases. I would also like to see public health policies that relieve pressure on hos- pitals and encourage individuals to take more responsi- bility for their own health. What is your vision for the future of precision medicine/genomics? Davies: Diagnosis at birth for rare diseases. Revela- tion of the risk of common disease, where requested, at 16 years of age so that lifestyle changes can be made. And the approval of more one-stop gene therapies that essentially cure the disease.

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