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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20 Clinical OMICs March/April 2019 www.clinicalomics.com What are the most significant advances in precision medicine/genomics over the past five years? Church: A key milestone has been getting to a point that everyone could, in principle, access their own interpreted whole genome sequence (WGS). This required a drop in price to sub-$1000 in 2015 and to zero (or better) in 2019—the latter by cost-recovery from researchers and large healthcare payers. Also it requires personal own- ership and control, with convincing privacy protection as in homomorphic encrypted queries with blockchain records of transactions. To eliminate severe Mendelian diseases responsible for 5% of deaths requires genetic counseling, which is about 1000-fold more cost-effective than therapeutic approaches. This is achievable via Dor Yeshorim, and variations on that, generalized to address all severe genetic diseases, with strong pre-conception options, including no stigmatization, no revelation of carrier status and dating apps focused on random sub- sets of compatible mates (not incompatibles). Another advance in the past five years is universalizing (allo & xeno) transplants some of which are personalized as in UCART (even neoantigen) therapies. How has your work supported these advances? Church: My lab has worked on most sequencing methods and companies, including single-molecule nanopores (Roche, ONT) and cyclic addition imaging (ABI, Ion-Tor- rent, CGI/BGI, Lynx-Illumina) and helped reduce costs from $3 billion for the first human genome in 2004 to $300 per whole genome today—and improved quality from 'clinically unacceptable' in 2004 (due to lack of separate information for paternal and maternal alleles) to fully haplotyped genomes today. We have also con- tributed to methods for fully shareable "open consent" medical + omic data and cells (Personalgenomes.org) as well as ultra-secure encrypted queries (Nebula.org). Our research on various genome editing methods (not just CRISPR) is relevant to the universal donor strate- gies above. What are the biggest challenges and/or opportunities that lie ahead? Church: HIV, TB, Malaria, Lyme. Some of these exhibit instead rare, highly resistant individuals, due to exceptional neutralizing antibodies or to missing pathogen receptors (e.g., CCR5 double nulls). These rare advantages can be har- nessed and redeployed to benefit the broader population. Similar strategies may be harvested from other species or from synthetic biology, but the challenges of such preven- tative medicines includes testing in healthy individuals and pejorative labeling as 'enhancements'. Prevention of cogni- tive decline or other diseases of aging might be achieved via mild cognitive enhancement or a risk of off-label use in indi- viduals with no signs of decline. Other challenges include encouraging randomized clinical trials on preventative medicines, education, encouraging broad participation in such RCTs and rigorous citizen science. What is your vision for the future of precision medicine/genomics? Church: As much as possible, this revolution should be equitably distributed to all people. This requires radical price cutting as noted above for WGS, which, in turn, may require applicability to large cohorts—even all 7.5 billion of us, as could be the case for aging reversal or for gene drives to achieve infectious agent extinction (anal- ogous to smallpox, polio, guinea worm). We may see a much stronger emphasis on preventative medicines and enhancements (relative to our ancestors, not to each other)—including vaccines, education, 24-7 omics and nutritional monitoring via smart phones with very sim- ple, yet precise and impactful, user interfaces. GEORGE Church, Ph.D. Harvard University and MIT ANNIVERSARY ISSUE

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