A Consortium of Researchers, NSIGHT, tackles big issues for tiny patients

A Consortium of Researchers, NSIGHT, tackles big issues for tiny patients

Ever think about the possibility of genome- scale sequencing in your baby? This publication shares some thoughts about this very real possibility.

New PARP Drug 'Could Benefit Most Ovarian Cancer Patients'

Patients with platinum-sensitive recurrent ovarian cancer showed significantly improved disease-free survival with niraparib (Tesaro), regardless of underlying genetic mutation status, in the first phase 3 trial to be conducted with a poly(ADP)-ribose polymerase (PARP) inhibitor.

The results showed that progression-free survival (PFS) improved by 73% in patients with a BRCA mutation (genetic change sometimes found in patients with hereditary breast/ovarian cancer) and by 55% in those without such mutations.

The new data were presented  at the 2016 European Society for Medical Oncology (ESMO) Congress and simultaneously published in the New England Journal of Medicine.

 

Scientists Debate Ethics of In Utero Germline Editing

With scientists on the verge of being able to manipulate genes before birth, questions about when it is ethical to use available technology and which risks are acceptable when editing the genome are being debated. European Society of Gene and Cell Therapy (ESGCT) 2016 Annual Congress. Presented October 21, 2016.

At the same time, GOD AND THE GENOME: AS SCIENTISTS CROSS NEW FRONTIERS, A GENETICIST SEEKS ALLIES AMONG THE FAITHFUL. STAT (10/13) reports Ting Wu, PhD, at Harvard Medical School is asking religious figures to consider to helping her to improve the public’s understanding of genetics. During a “time of unprecedented access to genetic tests and plummeting costs for genetic sequencing, Wu believes people should know what scientific advances mean for them.” Wu’s outreach “to faith groups comes as advances in genetics are forcing scientists to grapple with the power of” the genome-editing, which is “driving much of the ethical debate these days” on the issue. Even “some leading scientists have expressed the belief that there’s something sacred about the human genome.” National Institutes of Health Director Dr. Francis Collins told BuzzFeed in July, “I do believe that humans are in a special way individuals and a species with a special relationship to God.” Collins added that “that requires a great deal of humility about whether we are possessed of enough love and intelligence and wisdom to start manipulating our own species.”

 

SCREENING COULD DETECT FAMILIAL HYPERCHOLESTEROLEMIA IN YOUNG CHILDREN, STUDY SUGGESTS.

The AP (10/26, Marchione) reports that research suggests “a blood test could reveal” that some children are “at high risk for early heart disease years in the future.” The findings were published in the New England Journal of Medicine. The research “also revealed parents who had the condition,” known as familial hypercholesterolemia, “but didn’t know it, and had passed it on to their children.”  To learn more about this visit the CDC Toolkit at https://www.cdc.gov/genomics/implementation/toolkit/fh_1.htm

GENOMICS IS FAILING ON DIVERSITY.

An article in Nature (10/13, Popejoy, Fullerton, 116K) outlines how the lack of diversity in genomic research puts underrepresented groups at risk because many of the potential benefits of genomic research are withheld from those groups. The authors point out that in 2009 96% of participants in genomic studies were of European descent and an updated analysis found that now nearly 80% of participants in genomic studies are of European descent. The article points out that it has been more than 20 years since the NIH mandated more diversity in biomedical research participants but how those benefits are mainly for people of European descent because of the lack of diversity in genomic research.  

Do you have suggestions on how to increase diversity in research studies?

 

 

Read an interview of Dr Craig Venter, leader of Human Longevity, Inc.

Dr Venter is moving science forward into the realm of prevention and precision medicine by building a million-person database by 2020 as a resource to understand the complex relationship between genes and biology, including human disease.  Read more about his plans.

Signatures of Cigarette Smoking identified in the DNA

A recent publication reports on DNA changes resulting from smoking exposure thought to be one potential mechanism by which tobacco exposure predisposes to adverse health outcomes, such as cancers, osteoporosis, lung, and cardiovascular disorders. These changes persist many years after smoking cessation and may be targets for future therapy development. Published in Circulation: Cardiovascular Genetics Sept 2016