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Esther Dyson and the “First 10″

Esther Dyson is a prominent force in the digital world, and is considered to be a member of the ‘digerati’ (a term for people who are the movers and shakers of everything technological).She is the daughter of the famous physicist Freeman Dyson and the mathematician Verana Huber-Dyson.

According to Wikipedia, the company that Ms. Dyson founded, EDventure Holdings, analyzes the impact of emerging technologies and markets on economies and societies.In addition, Ms. Dyson is on the board of the genetics company 23andme.Her interest in genetics and emerging technology is undoubtedly one of the main reasons she has decided to become one of the “First 10.”

The “First 10”

The “First 10” (or “First Ten”) references ten volunteers who are part of the Personal Genome Project, or the PGP.The PGP, headed by Dr. George M. Church of Harvard, aims to develop affordable personal genome sequences as well as user-friendly data applications.Initially, the project will start by releasing the sequencing and complete medical records of 10 individuals.Because of issues of risk versus benefit and informed consent, the first set of ten volunteers will be people who have a “master’s level or equivalent training in genetics or equivalent understanding of genetics research.”According to the PGP website, “[p]roduction costs per subject range from $8K for a limited subset of the genome to over $200K per subject to cover a significant fraction of their DNA.”According to a recent New York Times article, the “project’s volunteers will receive the one percent of their genome currently deemed most useful at a cost of $1,000.”This conflicts with the PGP’s description of the cost, and I’m not sure what the discrepancy is about.

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DYS464 and Male Infertility

Dr. Mark A. Jobling at the University of Leicester published a study in 2005 that examined DYS464, a Y-DNA marker commonly sequenced for genetic genealogical purposes.As it turns out, sequencing DYS464 can inadvertently detect an AZFc deletion.Deletion of AZFc (azoospermia factor c) causes spermatogenic failure and subsequently, male infertility.This marker is tested by at least 6 firms.

Dr. Jobling pointed out that a previous study had concluded that an AZFc deletion could be found in 1 in every 4000 males.In Dr. Jobling’s study there were 3 cases in 3255 males tested, which he states is “not significantly different from 1 in 4000.”A story in the New Scientist stated that “a study by Jobling’s team suggests that 1 in 1000 men has the deletion,” but I think that is an overstatement by the media. I haven’t seen anywhere that Dr. Jobling made such a statement – he was merely listing some of his data. Elsewhere, Ann Turner has suggested that at FTDNA, the number is around 1 in 8,000.Although the exact frequency has not yet been determined, it appears that it is rather low.

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Autosomal Genetic Testing

 

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Yesterday I posted a link to an article in the UK Guardian, “The genes that build America” in which the author attempted to summarize some of the recent controversial topics in genealogical research, including DNA testing.

For at least one of my readers, the article represented everything that is wrong with DNA testing, specifically the assignment of racial/ethnic percentages based on the results of autosomal testing.

In the past, I’ve tried to be as impartial as possible when discussing autosomal testing. As I’ve learned, however, being impartial can also be unfair and misleading. So, I’ve decided to get a little more personal and share my thoughts about autosomal testing.

In a single sentence, autosomal testing is simply too new and underdeveloped to be of much informative use for genealogists or the average public, at least in its current stage. This statement, I hope, will be completely incorrect in a few years as whole genome sequencing becomes affordable. Assigning percentages (as autosomal tests do) will only work when the entire genome can be sequenced and examined and analyzed. Short of whole genome sequencing (and maybe comprehensive SNP testing – as in millions of SNPs), I don’t believe that autosomal is worth the effort.

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Genetic Genealogy in the Observer

The Observer has an article, “The genes that build America” which is a summary of every popular genetic genealogy new story to appear in the past year.From the story header:

“From the discovery that presidential hopeful Barack Obama is descended from white slave owners to the realisation that the majority of black Americans have European ancestors, a boom in ‘recreational genetics’ is forcing America to redefine its roots. Paul Harris pieces together the DNA jigsaw of what it really means to be born in the USA.”

Thanks to Hsien at EyeonDNA.

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Should Genes be Patentable?

Hsien at EyeonDNA has a great post about patenting genes, including a poll and a discussion in the comments.

Dr. Lei links to a recent symposium on the topic at the Genetics & Public Policy Center at Johns Hopkins and mentions legislation proposed in February 2007 that would ban the patenting of human genetic material.

I think it would be great if you stopped by and voted, or left your thoughts in the comments. This is a very controversial topic, and it would be very interesting to see how others feel about it!

Genetic Genealogy in Brazil

The BBC has an article about genetic genealogy testing of nine celebrities in Brazil for a project called Afro-Brazilian Roots by the Brazilian Service of the BBC. These lucky individuals received Y-DNA, mtDNA, and autosomal testing, and most were surprised with the large proportion of European genealogy revealed by the tests.

“Brazil has more people with black ancestry than any other nation outside Africa, and its mix of Indians, Africans and Europeans gave rise in the past to the claim that the country was a ‘racial democracy.’ ”

“No one is pure in Brazil. That’s why the country has the face of the future,” said Harvard Professor Henry Louis Gates Jr., coordinator of a similar project in the U.S.”

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Wireless Healthcare

Wireless Healthcare, a company based in England, recently released a report entitled “Wireless Based Disease Management: Google, Microsoft and IBM in the Healthcare Market.” Naturally, I can’t read this report because it costs almost $400 USD. I noticed it, however, because it addresses the impact of online availability of genomic/genetic testing results. Specifically, the report addresses (at least I believe it does!) the advisability of online advertising displayed alongside health care records.

According to news releases and a blog post:

“Wireless Healthcare forecast patients gaining access to their genetic profile and managing their health using an online patient record, but they expressed doubts about the efficacy of banner advertisements as revenue model for companies that offer such services.”

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