Louisville Medicine Volume 68, Issue 11 - Page 18

PRACTICAL GENETICS
( continued from page 15 )
Investigational New Drug applications for all .
China ’ s recent embrace of “ lucrative innovation first , questions later ” has led to the formation of Shenzhen , China ’ s National Genebank , as of spring 2020 storing over 5 million whole human genomes . Run by BGI Group , it sequences DNA samples from the whole world . Two alumni from its Cognitive Genomics Lab in 2017 founded the for-profit Genomic Prediction company , offering infertility clinics “ designer ” tools for human embryos conceived by IVF . This company ’ s preimplantation genetic testing tool ( PGT ), using a single cell , maps over 800,000 single nucleotide polymorphisms of the embryo ’ s chromosomes , and can identify the parental origins of genetic abnormalities . But a study in Cell 2 late 2020 showed that attempts to edit only one gene ( that affects blindness ) over half the time ended up removing or damaging whole or large parts of chromosomes . The tool is highly useful ; the preemptive therapy , dramatically risky .
In Shenzhen , Dr . He found a research home at UTSC , recruiting a top lab team along with wealthy investors for his dream of changing the human embryo to make it HIV-immune . Chinese HIV victims are scorned . They buy antiretrovirals on the black market . Even though prescribed meds are free , severe job and housing discrimination accompany any official diagnosis . Dr . He weathered huge technical problems for many months until finally he settled on knocking out CCR5 , the receptor that HIV uses to enter our cells . All along , the Party , his biotech backers and his UTSC deans supported and celebrated his efforts . When he finally recruited potential parents , he ended up with two successfully pregnant couples , one with twins : and studies on those embryos showed successful CRISPR deletion of the targeted single gene . In December 2018 , the news of the twins ’ birth shocked the world .
Swift recrimination soon followed . Howls of “ playing God ” poured in . Cries against the Nazis ’ eugenics efforts echoed . Despite the astounding technical success of his endeavor , Dr . He lost his
16 LOUISVILLE MEDICINE

Dr . Kirksey ’ s strength here is explaining and linking the successes and failures of gene therapy ’ s attempts to treat leukemias , HIV and severe heritable disorders to the bold new moves to “ fix this ” while the sufferer is only an embryo .

job , his apartment and his freedom . In December 2019 he began a three-year prison sentence because he failed , in obtaining informed consent , to tell the parents that this was not yet legal in China . It was simply unprecedented .
Yet the world could use a cure for Huntington ’ s Disease , and Sickle Cell Anemia , and the Muscular Dystrophies , Hypertrophic Cardiomyopathy , etc ., etc . Defining the ethics and refining the techniques might get us there , but the ethics part must come first . Couples yearning for a child can be desperate . Preying on them is immoral , but helping them safely is not . We just have to figure out how .
References
1 . S . Eben Kirksey , Barron Visiting Professor , Environment . princeton . edu , Sept 2015
2 . DOI : https :// doi . org / 10.1016 / j . cell . 2020.10.025 Treff et al
Dr . Barry is an internist and Associate Professor of Medicine ( Gratis Faculty ) at the University of Louisville School of Medicine , currently taking a six-month sabbatical .