Daily Archives: March 26, 2015

Large genome databases are starting to reveal critical health informationeven about people who have not contributed their DNA.

Maps show how common certain risk-causing DNA mutations are around Iceland.

The CEO of an Icelandic gene-hunting company says he is able to identify everyone from that country who has a deadly cancer risk, but has been unable to warn people of the danger because of ethics rules governing DNA research.

The company, DeCode Genetics, based in Reykjavk, says it has collected full DNA sequences on 10,000 individuals. And because people on the island are closely related, DeCode says it can now also extrapolate to accurately guess the DNA makeup of nearly all other 320,000 citizens of that country, including those who never participated in its studies.

Thats raising complex medical and ethical issues about whether DeCode, which is owned by the U.S. biotechnology company Amgen, will be able to inform members of the public if they are at risk for fatal diseases.

Kri Stefnsson, the doctor who is founder and CEO of DeCode, says he is worried about mutations in a gene called BRCA2 that convey a sharply increased risk of breast and ovarian cancers. DeCodes data can now identify about 2,000 people with the gene mutation across Icelands population, and Stefnsson saidthat the company has been in negotiations with health authorities about whether to alert them.

We could save these people from dying prematurely, but we are not, because we as a society havent agreed on that, says Stefnsson. I personally think that not saving people with these mutations is a crime. This is an enormous risk to a large number of people.

The Icelandic Ministry of Welfare said a special committee had been formed to regulate such incidental findings and would propose regulations by the end of the year.

Kri Stefnsson

The technique used by DeCode to predict peoples genes offers clues to the future of so-called precision medicine in other countries, including the U.S., where this year President Barack Obama called for researchers to assemble a giant database of one million people (see U.S to Develop DNA Study of One Million People). A large enough U.S. database could also be used to infer genes of people whether or not they had joined it, says Stefnsson, and could raise similar questions about whether and how to report health hazards to the public.

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Genome Study Predicts DNA of the Whole of Iceland

Scientists who sequenced the entire genomes of 2,636 people in Iceland have produced a trove of information about the nature, location, and frequency of human genetic variations.

The new research not only sheds light on the range of human genetic variability; it helps equip researchers to draw more direct lines between genes and diseases.

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FOR THE RECORD

A previous version of this story said the director of the Genetic Variation Program at the National Human Genome Research Institute was Linda D. Brooks. She is Lisa D. Brooks.

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In a package of articles published Wednesday in the journal Nature Genetics, a private consortium of researchers found genetic abnormalities long thought to doom their host to early death to be more common than has been believed. They also discovered new genetic contributors to such varied afflictions as Alzheimer's disease, liver disease and atrial fibrillation.

The effort, underwritten by Amgen's DeCode Genetics, a biopharmaceutical company based in Reykjavik, Iceland, offers scientists insight to the human genome that will expand their ability to investigate the genetic bases of human diseases.

By sequencing the full genomes of more than 2,500 Icelanders and comparing the results with less extensive genotype data from more than 104,000 other Icelanders, the teams identified more than 20 million genetic variants in the Icelandic population.

They then cross-checked that information against Iceland's extensive genealogical and healthcare information records, which would document diagnoses, chronicle treatment response and allow researchers to see how a single disease might run through generations of a given family.

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Icelandic genome offers clues to human diversity, gene-disease links

Photo: Chris Lund The blood of a thousand Icelanders.

When the first Viking explorers began settling Iceland, none could have imagined that theirdescendants would pioneer thefuture of modern medicine by surveying the human genome. Fast forward 1000 years to today, whenanIcelandic company has revealedits success insequencing the largest-ever set of human genomes from a single population. The new wealth of genetic data has already begunchanging our understanding of human evolutionary history. It also sets the stage for a new era of preventive medicinebased on individual genetic risks fordiseases such as cancer and Alzheimers disease.

Themilestone in genome sequencing comesfromdeCODE Genetics, a biopharmaceutical company inReykjavk, Iceland. Theirwork, published as four papers in the 25 March 2015 issue of the journalNature Genetics,has yielded new insights aboutthecommon human ancestor for the male Y chromosomenarrowed tosomewhere between 174,000 and 321,000 years agobased on their latest calculation of human mutation rates. Another part of their work discovered thatabout 7.7 percent of the modern-day population has rare knockout genesgenes that have beendisabled by mutations. Early research has also revealed a mutation in theABCA7gene,whichdoubles the risk of Alzheimers disease in Iceland and other populations dominated by European ancestry.

These are just a handful of observations that have come out of the ability to look at the sequence of the genome of an entire nation,saidKari Stefansson, founder of deCODE Genetics, during a press briefing onMonday, 23 March.What is more, we are now sitting in Iceland with the possibility of taking advantage of these insights when it comes to the Icelandic healthcare system.

The company sequenced thewhole genomes of 2636 Icelanders and used those genomes as the basis for calculatingthe genetic variances for the entire Icelandic population.Iceland represents a unique laboratory for genetics researchers because much of the modern population traces its lineage to a relatively small number of founders; a fact that makes it easier to trace genealogies and pedigrees.

Myles Axton, chief editor ofNature Genetics, introduced the Monday press briefingbydescribing how the genetic sequencing strategy in Iceland could also work for other countries:

This strategy of sequencing the DNA of about 1 in 100 of the population, a total of 2,636 Icelanders, and then using shared sets of common genetic variance to predict the full spectrum of genetic variance carried by the whole population, is a great model for the future of human genetics. This technique can be applied to any population and is all the more accurate when there are pedigrees available for much of the population.

Genome sequencing has alloweddeCODE Genetics to begin data-mining information about how certain genes function and their relationship to a broad array of diseases. Past findings from such research included additional insights about gene variants associated with Alzheimers disease and schizophrenia.

The growing database on knockout genes may prove particularly helpful when matched against the phenotypes of individualsthe physical traits or characteristics that can be observed. Perhaps unsurprisingly, the researchers found that knockouts are least common among genes expressed in the brain, given that organs importance.

Basically what we hope to get out of phenotyping the carriers of these knockouts is to figure out which biochemical pathways are necessary for which physiological functions, Stefansson explained.Then the question is whetherthere is redundancy in some of these physiological functions;are there alternative biochemical pathways that can compensate for the loss of one?

Original post:
Iceland's Giant Genome Project Points to Future of Medicine