Science Policy For All

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Science Policy Around the Web – June 15, 2018

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By: Morgan Biggs

 

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source: Shaury Nash via Flickr (CC BY-SA 2.0)

DNA Sequencing

Rapid genome sequencing could revolutionize health care for acutely ill babies

Genetic disorders and congenital anomalies are a leading cause of morbidity and mortality in infants. Of the 14% of newborns admitted to neonatal intensive care units, those with genetic disorders are often hospitalized for a greater period of time. Maverick Coltrin, like many other newborns, suffered from an undiagnosed genetic condition. Despite receiving multiple tests and medications, Maverick’s uncontrollable seizures could not be diagnosed by doctors.

However, after his parents were given the opportunity to participate in a study that would analyze both Maverick and his parents’ DNA with a rapid whole genome sequencer, doctors were able to properly diagnose Maverick’s condition in less than two days. They discovered that the newborn suffered from Pyridoxine-Dependent Epilepsy, a form of epilepsy that could be easily treated with vitamin B6 supplements.

Similar trials using rapid whole genome sequencing (rWGS) are being conducted to determine its’ effectiveness compared to standard genetic tests. Results from a study conducted by Stephen Kingsmore, founder of the Rady Genomic Institute, revealed that rapid sequencing offered accurate diagnoses for 18 of 42 infants with suspected genetic disorders, while standard genetic tests identified a disease in only four cases. In addition to providing doctors and families with a faster and more precise diagnosis, rapid whole genome sequencing is more cost-effective. Using the rapid diagnosis method from rWGS resulted in hospital savings of $800,000 for six cases in the Rady Study. Furthermore, the cost of performing the test for all 42 families totaled $675,000, illustrating the economic feasibility of rWGS. Rapid whole genome sequencing technology could greatly benefit families by significantly decreasing hospitalization time and expense.

The implementation of rWGS technology in hospitals has additional value to doctors, as more research opportunities and hypotheses can be generated from the analysis of the collected genome data. In order for physicians and researchers to receive the greatest benefit, they would need to identify which patients could receive the most value from the rapid whole genome sequencing test. As the level of effectiveness varies from different patients, sometimes the less expensive test will suit some patients just as well as the rWGS.

Rapid whole genome sequencing is a healthcare innovation that could drastically improve the health outcomes of acutely ill infants and significantly decrease the cost of care.

(Sarah Elizabeth Richard, The Washington Post)

Epidemiology

An outspoken epidemiologist become U.S. science envoy

Michael Osterholm, director of the Center for Infectious Disease Research and Policy (CIDRAP), has recently been selected to serve as one of five 2018 U.S. Science Envoys. Other 2018 U.S. Envoys include renowned engineers and administrators such as James Schauer, the director of the Wisconsin State Laboratory of Hygiene, and Charles Frank Bolden Jr., the former Administrator of the National Aeronautics and Space Administration.

Since its launch in 2009, the Science Envoy program has significantly enhanced relationships and improved collaboration with other countries to address issues in science and technology, as well as develop cutting edge innovations. These scientists will use their influence and expertise to better aid and develop solutions to various health and technology challenges in priority countries.

Osterholm’s qualifications as the new Science Envoy for Health Security combine expertise in infectious disease epidemiology, as well as leadership in the research, prevention, and control of infectious disease. In this position, Osterholm will focus on combating biological threats by collaborating with priority countries on infectious disease preparedness and antimicrobial stewardship. Through CIDRAP’s Antimicrobial Stewardship Project, information and educational resources will be offered to better educate communities on the appropriate use of antimicrobials, reducing microbial resistance, and decreasing the spread of multi-drug-resistant organisms.

(Jon Cohen, Science Magazine)

 

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Written by sciencepolicyforall

June 15, 2018 at 3:36 pm

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