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Genetic Linkage

Viewpoint: Netflix’s new horror movie ‘Eli’ is a fright. But why did they have to ‘tarnish gene therapy’?

he new horror flick on Netflix, Eli, released just in time for Halloween, borrows from The Exorcist and Rosemary's Baby, with touches of The Shining. And it all takes place in what looks like Downton Abbey with the cleaning staff gone.


"Eli" works; it's scary. But the set-up using gene therapy gone awry is unfortunate, superfluous, and even offensive. (Beware, spoilers ahead)


To continue reading, go to Genetic Literacy Project, where this post first appeared.

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Ancestry tests underreport African genetic diversity, limiting benefits of precision medicine for blacks. Here’s how we can change that.

We know that modern humans emerged about 200,000 years ago in Africa. So it's fair to say that African genomes are ancestral to us all – descendants of those who stayed in Africa as well as of those who left.


And yet people of African ancestry are astonishingly underrepresented in the genetic reference panels used to inform the "ethnicity estimates" that DNA testing companies return to customers who send in spit samples, hoping to trace their origins to something specific enough to compare to documents and family lore. A wider representation in the reference panels would also aid the interpretation of genetic information in developing new precision medical treatments.


New hope for rectifying this imbalance, in the form of the sequencing of 426 African genomes, was announced at the recent 2019 American Society of Human Genetics annual meeting in Houston. The talk's title encapsulated the vast scope of the work: "High-depth genome sequencing in diverse African populations reveals the impact of ancestral migration, cultural demography, and infectious disease on the human genome."


Right now, the colorful pie charts and polygons that depict customers' geographic origins skew heavily European.


To continue reading, go to Genetic Literacy Project, where this post first appeared.

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When the Target Isn’t Really the Target: One Way Cancer Drugs Fall Out of Clinical Trials

Ninety-seven percent of potential new cancer drugs never make it to market, dropping out of clinical trials when they don't meet measures of safety or efficacy.


"Why that is, we don't really know. But I think that this extremely high failure rate suggests that there are some fundamental issues in how new drug targets are studied and how new drugs are characterized," said molecular biologist Jason Sheltzer, PhD, an Independent Fellow at the Cold Spring Harbor Laboratory on Long Island, NY.


He decided to investigate, and uncovered the potential power of publishing negative evidence.


CRISPR Improves Precision


The team reports in Science Translational Medicine on using the gene editing tool CRISPR-Cas9 to test whether 10 experimental cancer drugs work exactly how their developers predicted they would. And they found a tunnel vision in the way that drugs are targeted that might explain why certain patients do not respond as hoped.


To continue reading, go to DNA Science, where this post first appeared.

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Breast Cancer Genetic Testing for All Women?

"I have no family history of breast cancer," says the woman in a public service announcement stressing the importance of mammograms for all women.


"No one in my family had breast cancer. Not one. But I start chemo next week," says the woman in another PSA.


Unfortunately, people paying only partial attention, as we tend to do these days, might come away with the earworm "family history – cancer," and perpetuate the misunderstanding that breast cancer only happens to people with a family history of it. That's simply not true, but the health care community apparently hasn't caught up.


A recently-published study in JAMA Oncology reports the number of lives saved among a large group of women diagnosed with breast cancer who had testing for three genetic risk (susceptibility) genes, even if they have no affected relatives. Might testing all women – not just those who already have breast cancer or have relatives with it – save lives as well? I think so.


To continue reading, go to my DNA Science blog at Public Library of Science, where this post first appeared.

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