Clinical OMICS

NOV-DEC 2018

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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Page 48 of 51 November/December 2018 Clinical OMICs 47 to the prenatal world. Wapner and his group will continue to look more deeply into whether prenatal genomic sequencing changes out- comes and care. And, he predicts that in just 3 to 5 years, there will be non-invasive fetal sequencing. Population Genetics Approaches for Medical Genomics During a Friday afternoon presentation, AGBT attendees found themselves at the intersection where anthropology and medical genomics meet. Presenter Eimear Kenny, Ph.D., is an assistant professor of genetics and genome science at the Icahn School of Medicine at Mount Sinai Hospital. The goal of Kenny's lab is to "realize the full potential of genomics to infer human history and evolution and to inform better models for clinical medicine." She does this by mea- suring genetic variation in populations and uncov- ering complex patterns of genetic diversity. Her lab sequences large numbers of ethnically diverse human genomes to study humans. This yields information that can be used to under- stand properties of humans in multiple different ways. One example is her recent work describing a novel variant that causes blond hair in the Solomon Islands, Melanesia. How- ever, other aspects of her work focus on health and disease related questions, such as findings regarding how patho- genic genetic variants are distributed over populations. The more ethnically diverse human genomes that her groups sequences, the more it becomes apparent that the majority of the genetic variants in the human genome are rare and geo- graphically restricted. The take home message from Kenny's talk was that, in order for precision medicine to reach its fullest potential, we need to "embrace diversity, embrace complexity, and embrace opportunity." Kenney's research shows that focusing a great deal of effort on a few "target populations" in medical genomics—a common practice—under the assumption that variants found in these populations will be relevant to other groups, is not sufficient. This is especially true if disease variants follow suit with what has been demonstrated with the rest of the genome. Kenny recently started a new four-year program known as NYCKidSeq to study the impact of pro- viding genome sequencing to 1,100 children from the Bronx and Harlem. Kenny said that "it's very likely that in the next five to 15 years, everyone walking into a health system will have their genomes sequenced. We don't want New York City children to be last to benefit from this par- ticular advancement." Eimear Kenny, Ph.D., Icahn School of Medicine, Mount Sinai Hospital Corbis/VCG / Getty Images In order for precision medicine to reach its fullest potential, we need to "embrace diversity, embrace complexity, and embrace opportunity."

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