My Genographic Project Results

The migratory route of my deep ancestors:


A depiction of my Y-chromosome showing the short-tandem repeats that were tested:


More information on the Genographic Project.

Public Opinion on Genetic Discrimination

Do you agree with the following statement:

"Genetic testing is not a good idea because you might have trouble getting or keeping your insurance."

In a recently published study, nearly 87,000 people were asked this question and 40% agreed.  The authors note  "[d]espite this concern, people were willing to be tested, and we didn’t see any clear sign that this concern was a large

deterrent to being tested."  Interestingly, they found that participants from states with legal protections against genetic discrimination were more concerned about discrimination than residents from states with no legal protections.

Hall, Mark A et al. "Concerns in a primary care population about genetic discrimination by insurers." Genetics in Medicine. 7(5):311-316, May/June 2005. (subscription only)

"Study finds research participants concerned about genetic discrimination" Medical News Today. May 26, 2005.

454 Life Sciences to Sequence Watson?

Watson_cavendishBack in 2003, 454 Life Sciences sequenced its first whole genome.  It was the genome of a virus measuring about 33,000 base pairs.  They have since turned their attention to larger and larger genomes…those of bacteria, flies, mice, and now, a famous scientist.  454 has offered James Watson a chance to glimpse his personal genome by the end of next year, when they expect to be able to sequence human genomes (3 billion base pairs) for less than $1 million.

Watson, now in his late 70s, requested not to be told about his APOE gene alleles, which are associated with Alzheimers disease.

"DNA pioneer may have genome sequenced" New Scientist. May 28, 2005.

454 Life Sciences slideshow on their sequencing technology

The Other Human Genome

Mito_smallWhen people refer to the human genome, they are likely using the narrow sense of the word to describe the collection of human chromosomes, i.e. the nuclear genome.  It can also be used more broadly to encompass all DNA found within an individual, including the "other" human genome contained within mitochondria. 

The mitochondrial genome sequence has been around since the early days of sequencing.  Fred Sanger and colleagues sequenced the mitochondrial genome in the late 70s and published the sequence, referred to as the "Cambridge Reference Sequence," in 1981.
  A recent review article summarized several of the major differences between the nuclear genome and the mitochondrial genome.

Characteristic Nuclear Genome Mitochondrial Genome
Size ~3.3 x 10^9 bp 16,569 bp
# DNA molecules per cell 23 in haploid cells; 46 in diploid cells Several thousand copies per cell
# Genes Encoded ~20,000-30,000 37
Gene Density ~1 per 40,000 bp 1 per 450 bp
Introns Frequent in most genes Absent
%age of coding DNA ~3% ~93%
Mode of Inheritance Mendelian inheritance for autosomes & X chromosome; Paternal for Y chromosome Exclusively maternal

Anderson, S., Bankier, A.T., Barrell, B.G., deBrujin, M.H.L., Coulson, A.R., Drouin, J., Eperon, I.C., Nierlich, D.P., Roe, B.A., Sanger, F., Schreier, P.H., Smith, A.J.H., Staden, R., Young, I.G. 1981. Sequence and Organization of the Human Mitochondrial Genome. Nature 290, 457-465.


R. Taylor and D. Turnbull.  "Mitochondrial DNA Mutations in Human Disease." Nature Reviews Genetics. May 2005, p.389-402.

Proposal for Genetic Pawprinting in Vienna

Austrian lawmaker district counselor Manfred Juraczka wants to build a DNA database to fight a growing dog doo menace on the streets of Vienna.  The system would be similar to the Combined DNA Index System (CODIS) in the U.S., except this one is for canines.


NHGRI is launching a pilot study called clinEncode:

…researchers will sequence a portion of DNA from 400 seemingly healthy volunteers and try to discern each person’s unique genetic risk factors for disease. They also plan to study the reactions of the volunteers to learning these results…The 400 volunteers will donate DNA and undergo a battery of tests, including blood pressure measurements and white blood cell counts. [NHGRI’s Eric] Green and his colleagues will sequence the same 1% of each person’s genome, regions that are already being intensely studied by basic researchers.  Green’s team plans to report back any variations spotted, including ones that may explain a person’s current and future health status. It’s not clear how people will react to such results. Previous studies involving genetic testing for specific diseases have suggested that people can handle bad health news.

Pennisi, E. "Gene Sequence Study Takes a Stab at Personalized Medicine" Science. May 20, 2005. (subscription only)

Davies Tries Cellf Eval Kit

Kevin Davies of Bio-IT world has a column on his trial of Sciona’s Cellf Evaluation Kit.  This is him describing his experience with the test:

my initial reaction was one of disappointment. The report soberly recommended that I should cut back on alcohol and caffeine, eat more cruciferous vegetables, and exercise more. “Brilliant,” I thought. “I’ve known that for years!” But the genetic analysis results were definitely intriguing. Sciona determined the genotypes of about 20 genes, looking specifically for DNA variations known to be associated with different enzyme activities and medical conditions…I would have no qualms about sharing those with Bio-IT World’s readers, but the health insurance company might be reading…in a few instances, specific genotype information did engender more personalized dietary advice. Just how useful is this personalized prescription? A few vitamin and antioxidant supplements probably won’t do anyone any harm, but will they actually do a body good?

Kevin Davies, Cellf Examination. Bio-IT World, May 16, 2005.

Free Electronic Health Record

Last week a new electronic health record service, iHealthRecord, was launched by Medem Inc. and it is being made available to medical consumers for free.  See a webcast of the launch, which includes a nice talk by Newt Gingrich towards the end (including a pitch for incorporating Medline driven information prescriptions into the service).

A recent article in the the Washington Post described the offerings of for-fee electronic health record providers that sell direct to consumer, including Laxor, FollowMe, WebMD, CapMed, and VitalVault.

Where’s Google?  Esther Dyson has been pushing the idea (or here) that Google should get into the game–I wholeheartedly agree.