DiversityNursing Blog

What Is Perfect Human Health? Google Wants to Map It

Posted by Erica Bettencourt

Mon, Aug 04, 2014 @ 04:53 PM

BY JULIANNE PEPITONE

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Google mapped the world's streets and developed self-driving cars to roam them. Now, the company wants to map something much larger: perfect human health.

Google Baseline, announced last week, will collect molecular and genetic information from an initial 175 volunteers and later thousands more. The philosophy is to focus on the genetics of health itself, rather than focus on disease.

Health research experts agree that Google brings a fresh perspective and technological expertise to the complex world of genetics. But they aren't sold on all facets of Google's approach.

"We want to understand what it means to be healthy, down to the molecular and cellular level," Google said in a press release. Google repeated the phrase "what it means to be healthy" a few times -- and that's what worries one expert.

"My immediate question is, what does Google mean by that? Healthy for a six-year-old boy, or a 75-year-old woman? You're injecting values about the range of humanity, right off the bat," said Arthur Caplan, the director of the division of medical ethics at the NYU Langone Medical Center and an NBC News contributor.

Google isn't purporting to develop a model of the singular perfect human. The goal is to analyze participants' data from to uncover "biomarkers," or patterns, that can be used to detect disease earlier.

"It's a perfectly reasonable approach, but I wouldn't do it under the 'what it means to be healthy' mission statement," Caplan said. "Those are fighting words. The mother of a child with Down's syndrome may consider her child perfectly healthy."

What's more, genetics alone doesn't provide a full picture of health or of disease, pointed out Kedar Mate, M.D., the vice president of the Institute for Healthcare Improvement, a Massachusetts-based not-for-profit.

"Genes are about 15 to 40 percent, behavioral patterns 30 to 40, socioeconomic factors 20 to 30, etc.," Mate told NBC News. "So even a wonderful genetic model is not a total picture of health."

What makes Baseline different, Google argues, is that it will "try to connect traditional clinical observations of health" like diet and other habits with genetic information.

But while Google (nor anyone) can't create the full model of perfect health, the company still brings two major advantages to the field: technological power and an outsider perspective.

"Anyone can collect 175 DNA samples," Caplan said. "But Google is a very, very powerful computational company. That's what makes it exciting."

Google's trove of technology resources and know-how could create a faster, smarter process for analyzing the links between genes and disease.

But not everyone in the field considers Google's computational power a major boost. Some genomics experts scoffed online at Google's assertion that Baseline is a "clinical research study that has never been done before."

"Frankly, anything Google does gets attention," Mate said.

"What would make it really different is Google's knowledge of so much of our behavior," he added. "If Google could take all of that and combine it with genetic information -- no other organization can offer us that."

But given what little we know about Baseline, it doesn't sound like Google is planning to do that -- at least not now. It's not clear they could, even if they wanted to.

Google declined to comment to NBC News on that point, or on the Baseline project overall. But the company told the Wall Street Journal, that use of data will be limited to medical and health purposes -- and won't be shared with insurance companies, for example.

Whether Google would -- or even could -- move to combine health data with the rest of the information it knows about our behavior, Mate insisted the nature of Google's business adds a unique element to the pursuit of health.

"You wonder if they’ll bring a fresh and different perspective, because this isn’t a stodgy academic project," Mate said. "The entry of a player like Google has the ability to stimulate the space -- and break it out of the way things have always been done."

Source: www.nbcnews.com

Topics: health, genetics, research, Google, human, perfect health

Genetically Modified Mosquitoes Could Wipe Out Malaria

Posted by Erica Bettencourt

Wed, Jun 11, 2014 @ 01:12 PM

By Alexandra Sifferlin

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After six years of trying, scientists have discovered a way to genetically modify mosquitoes so they produce sperm that will only conceive male offspring.

Female mosquitoes are the ones who bite people and pass along malaria, so scientists think if they can significantly lower the number of female mosquitoes the rate of malaria will also go down. In their researchpublished in the journal Nature Communications, the researchers created a modified strain of mosquitoes that produced 95% male offspring.

When they introduced the strain to a five caged wild mosquito populations, the modified pests eradicated entire mosquito populations in four of them. There were too few females for the populations to survive. The researchers hope that this same scenario could happen in the wild, and malaria-carrying mosquitoes could die off.

Their findings are important because the scientists are the first to interfere in the sex ratios of mosquitoes, and their strategy could be successful in eliminating malaria, which remains a fatal disease in some sub-Saharan regions in Africa. Malaria prevention methods worldwide have brought down malaria mortality rates by 42%, but scientists are concerned over insecticide-resistant mosquitoes that pass along drug resistant malaria.

“The research is still in its early days, but I am really hopeful that this new approach could ultimately lead to a cheap and effective way to eliminate malaria from entire regions. Our goal is to enable people to live freely without the threat of this deadly disease,” said study author Roberto Galizi from the Department of Life Sciences at Imperial College London in a statement.

Source: time.com

Topics: genetics, mosquitoes, scientists, malaria

Newborns may benefit from fast genetic test

Posted by Alycia Sullivan

Fri, Oct 26, 2012 @ 03:07 PM

newbornGenome sequencing is rapidly changing modern medicine, and a new study shows its potential impact on seriously ill newborn babies.

New research published in the journal Science Translational Medicine this week makes the case for a two-day whole-genome sequencing for newborns in a neonatal intensive care unit (NICU).

After 50 hours, the test delivers to doctors a wealth of information about what could be causing newborns’ life-threatening illnesses. This would allow them to more efficiently and quickly tailor therapies to the babies, when possible, and identify problematic genetic variants that multiple family members may share.

“We think this is going to transform the world of neonatology, by allowing neonatologists to practice medicine that’s influenced by genomes,” said Stephen Kingsmore, the study's senior author and director for the Center for Pediatric Genomic Medicine at Children’s Mercy Hospitals and Clinics in Kansas City, Missouri, at a press conference Tuesday.

There are more than 3,500 diseases caused by a mutation in a single gene, Kingsmore said, and only about 500 have treatments. About one in 20 babies born in the United States annually gets admitted to a neonatal intensive care unit, he said. Genetic-driven illnesses are a leading cause of these admissions at Kingsmore’s hospital.

One example of how a genetic test would help newborns is a condition called severe Pompe disease, Kingsmore said. Children with this disorder die if they are not treated by age 1. They will live longer, at least four years, if they receive an enzyme replacement therapy.

The study shows how two software programs, called SAGA and RUNE, work together to help physicians pinpoint the genes that could be causing problems in the children. A company called Illumina developed a rapid genome sequencing device that incorporates the programs.

Researchers reported diagnoses as a result of this genetic test in the study for six children. Two of these tests were done retrospectively, after the children had died.

The test extends beyond the ill baby; genome sequencing can also identify genetic traits in multiple family members, the researchers said. Carol Saunders, the study's lead author, explained at the news conference how one baby and his 6-year-old brother both have a congenital heart defect and heterotaxy, meaning some internal organs are located on the wrong side of the body.

While some children will still die from incurable genetic disorders after being tested for them, the knowledge about diagnosis and likely outcomes for future children is beneficial for parents, experts say.

“Knowing the marker or defect may provide some information regarding the prognosis so the family knows what to expect,” Saunders said. "Importantly, it also allows them to have accurate genetic counseling regarding their risk to have another affected baby, and to make informed decisions about their reproductive future.”

Families value the diagnoses derived from this genetic test because it gives an answer, and alleviates guilt that something happened during pregnancy, Kingsmore said in an e-mail.

“It gives time for maternal bonding and saying goodbyes and last rites that can be planned,” Kingsmore said. “This is all complex but very real.”

The test costs roughly $13,500, but costs of whole-genome sequencing are quickly falling – experts believe a $1,000 genome sequence is not far off, Kingsmore said.

Children’s Mercy Hospital plans to offer this testing before the end of the year. Next year, Kingsmore and colleagues plans to offer testing at other hospitals for NICU patients.

Kingsmore estimates that about 5,000 babies a year could benefit from this technology.

“Ultimately, it will be used for every child with an illness that may be due to a genetic disease,” he said.

It made sense to start with the NICU because of the costs involved, he said.

Topics: genetics, newborns, benefits

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