The Genetic Genealogist

As I mentioned back in June,  Ancestry.com has teamed up with Sorenson Genomics to offer DNA testing.  Today I received the following notification announcing the beta launch of dnaancestry.com.  A Y-DNA test with 33 markers will be $149, while a Y-DNA test with 46 markers will be $199 (if you look at the sample results page, you’ll see a list of the 46 markers tested).  An mtDNA test will be $179, although the exact testing parameters for the mtDNA test are unclear at this point (the website only states that HVR1 and HVR2 will be sequenced).

Introducing DNA Ancestry
We want you to be one of the first to know we’re adding a powerful new dimension to genealogical research by integrating the world’s largest online collection of historical records and family trees with DNA testing. Currently in beta, DNA Ancestry is another way we’re helping people expand their family trees and connect with family across distance and time.

We created DNA Ancestry to help users:

• Validate existing research.
• Break through genealogical dead ends.
• Discover and connect with genetic cousins.
• Collaborate and expand their family trees.
• Learn about ancient origins.
• Review, decipher and save test results safely and conveniently online.

As the DNA Ancestry database grows, we will continue to compare your results with the results from new users and notify you by email when we find potential matches.

How does it work?

1. Purchase a DNA test kit. Your kit will include three collection swabs, an envelope for recording your information and a postmarked return envelope.
2. Swab the inside of your mouth. Follow the instructions provided, rubbing each swab inside both of your cheeks.
3. Mail your kit to our labs. We’ll begin analyzing your DNA sample as soon as we receive it. Results are typically available within 2-3 weeks after the lab receives them.
4. View your results online.
   • Your personal DNA profile
   • A map displaying the location of participants matching your DNA
   • A table comparing your DNA profile with matching profiles
   • A chart showing the range of generations in which you and another participant may share a common ancestor.
   • Safe, secure, and anonymous, e-mail connections with potential genetic cousins
   • A haplogroup prediction, map and migration history

What tests are available?
DNA Ancestry currently offers the following genealogical tests:

PATERNAL LINEAGE TEST
Y chromosome 33 marker test $149
Y chromosome 46 marker test $199

• These tests provide an indicator of the direct paternal line and can be compared to others’ results to find matches signifying relationships
• Only males can be tested, though females may have a male relative in their paternal line tested by proxy
• Includes a paternal haplogroup prediction, which indicates the direct paternal line’s ancient ancestry

MATERNAL LINEAGE TEST
mtDNA test $179

• This test includes a maternal haplogroup prediction, which indicates the direct maternal line’s ancient ancestry
• Both males and females can be tested

What’s next for DNA Ancestry?
Very soon you’ll be able to add your DNA test results to your online family tree. This will make it even easier to connect to the 3 million other Ancestry.com member trees on the site and tap into thousands of hours of completed genealogical research.

Surname Projects
Our initial beta launch of DNA Ancestry Version 1.0 will not include DNA surname projects support. We are taking the input we have received from Project Coordinators surveys, as well as other outside information, and are using it to build DNA Projects in a way that will be better for all of our members. Until then, we encourage project coordinators to continue to build projects and monitor results through the Relative Genetics site with their Relative Genetics login. The project data and members will transfer over to DNA Ancestry with our DNA Ancestry Version 1.1 launch, which is planned for the end of the year.

Already had your DNA tested?
DNA Ancestry has a function that will let users add their test results to the DNA Ancestry database and allow them to connect with others who share their DNA.

Learn more about DNA Ancestry at DNA.Ancestry.com.

Yesterday we saw that many funeral directors offer DNA retrieval and storage as one of their services. Today, we’ll look into the WHY of DNA storage, and bring up some of the ethical questions it raises.

Why store DNA from the recently deceased?

Undoubtedly, someone who has never heard of DNA retrieval and storage will probably ask WHY we should store a dead relative’s DNA.

The reason most commonly quoted is that the DNA can be used in the future to identify inherited traits such as genetic disorders and other phenotypic characteristics. In 2006, the New England Historic Genealogical Society published an article by Edwin M. Knights, M.D. entitled “DNA Banking for Medical Information.” In the article, Dr. Knights gives a number of reasons for banking DNA from both living and deceased individuals, many of which he gleaned from the Human Genetic Society of Australasia. He states:

• “To allow for molecular diagnosis and characterization of the mutation should this become available in the future, DNA needs to be stored from affected individuals. If none of the affected individuals in the family are available, it may be appropriate to store DNA from a fetus after termination of a pregnancy at risk, or from a stillbirth or neonatal death at risk for the disorder, especially in the case of X-linked recessive conditions.

The National Society of Genetic Counselors, on the other hand, has stated that there are only two occasions when DNA banking is appropriate (the Society has a brochure available here (pdf)).

1. When current technology has failed to find a genetic cause for what appears to be an inherited disease in a family, or

2. When genetic testing is not feasible or available to an affected individual, but may be available in the future.

From a medical standpoint, it is unclear how useful stored DNA might be. According to Eric Juengst, an associate professor of biomedical ethics in MetroHealth Medical Center in Cleveland, until recently testing multiple generations for a hereditary disease like Huntington’s chorea was not unusual. But scientific advances have allowed the same information to be gathered by testing just one individual. “The way that genetic tests are being sold to the public as prevention tools are no more powerful than the tools we use today like cholesterol tests,” Juengst said. “This is a very minimal service.”

Do we really need our parents’ DNA for information? As far as we know, almost everything we need to know about our propensity for genetic disease is contained in our own genome. For me, the reason I would save my ancestor’s DNA is to learn about their genealogy, not about any predisposition I might have towards disease.

“The DNA samples also could be used to determine paternity, which might reveal a few unexpected and unwanted surprises, Juengst said.“You might find out your dad really wasn’t your father,” he said. “Maybe that secret was supposed to go to the grave. We’re supposed to respect the dead and we need to respect their genetic secrets as well.”

If I save my great-grandmother’s DNA and analyze it for genealogical information, am I showing disrespect?

Ethical Questions Associated with DNA Banking:

Banking DNA from the deceased raises many ethical dilemmas and forces us to ask difficult questions. The American Society of Human Genetics (ASHG) has issued a “DNA Banking and Analysis” statement that offers a number of interesting questions surrounding DNA Banking:

1. Who Owns the DNA in a Bank?

2. Under What Circumstances, if Any, Should the DNA Diagnostic Laboratory Release Results or Deposited DNA to Anyone Other than the Patient?

3. Should DNA Banks and/or DNA Diagnostic Laboratories Be Certified?

A recent article available at New England Ancestors, “DNA Banking for Medical Information”, suggests the obvious, that DNA should be stored today for tests that will only be available tomorrow. The article also lists some of the most important questions facing companies that offer DNA banking and consumers that plan to partake of these services:

1. Why is the DNA being banked?

2. Who owns the banked DNA?

3. Who controls the bank, and how secure is it?

Although both of the above studies were about DNA banking in general, the questions also apply to DNA retrieval from the dead.

I also wonder whether offering DNA retrieval and storage to someone who is grieving is unethical. In a way, the service is offering the bereaved the ability to retain a piece of the deceased and to store that piece for an indefinite period of time. Someone who is grieving might jump at this chance to prolong their ability to hold onto the deceased. On the other hand, perhaps it might help the healing process.

The most important concern about DNA retrieval from the deceased is the question of consent. Unless the deceased was asked before death, retrieval is without consent. Currently, however, you can obtain and analyze anyone’s DNA without consent, so perhaps this isn’t as radical as it seems. As a recent article in the New York Times discussed, some people have gone to great lengths to obtain a distant relative’s DNA against their wishes. In most cases, at least the DNA retrieval from the dead won’t be against their written or vocal wishes. But it will still be taken without consent.

In conclusion, I’m not completely against DNA retrieval and storage, especially when consent is given. Who knows what that DNA might be good for in the future. My analysis is just meant to look at some of the potential problems with DNA storage, and to foster thought and conversation. Our genomes are able to hold many secrets. Only recently have we had the technology to reveal these secrets. What are your thoughts?

The field of genomics is exploding. Every day, the mysteries of our genome are revealed and we learn more and more about the power of DNA. Soon, with affordable whole-genome sequencing, we will be able to analyze our own personal genome for clues about our ancestry, our propensity for disease, and insight into our body and our personality. In fact, this is already well underway.

Undoubtedly, each of us will be faced with a decision in our lifetime – do we want to learn the secrets of our genome, or do we want to live without that knowledge, as all of our ancestors have done for millions of years. This decision is a personal one, and at this point I don’t think there’s any right or wrong answer.

But what about those who are unable to make that decision? For example, an infant is unable to give consent for genetic testing, but many states in the US routinely test newborns for genetic disorders. Today and tomorrow we will be examining another group of individuals who are not able to consent to genetic testing – the recently deceased.

DNA Banking

There are number of companies in the US and throughout the world that offer DNA retrieval from recently deceased individuals. Kauber-Miller Funeral Home in Pataskala, Ohio has been using DNA Connections to offer storage service to bereaved families. In a 2004 interview, Mr. Miller stated that the service has been popular:

“About 30 percent of the families take advantage of it,” he said. “It seems to be a generational thing, with younger people more in favor of it.”

In 2004, the cost was $295 before embalming and $459 after embalming. Before embalming, a blood sample is dried on specially coated cards and stored inside a vault at DNA Connections’ headquarters. After embalming, a skin sample must be taken to retrieve the DNA.

Perhaps surprisingly, the ability to store a deceased person’s DNA has been around for more than ten years. In 1998, an article in the Huntington’s Disease Lighthouse newsletter described a DNA storage service from Cincinnati-based DNA Analysis, Inc. For $350, the company would take hair, blood, and cheek swab samples for long-term storage. The family would also receive a “genetic fingerprint”, although it is unclear exactly what that phrase means.

The ability to store DNA from both the living and the recently deceased is increasing every day. The City of San Bruno in California recently posted online instructions for banking the DNA of children in your own freezer. Although the instructions were provided to assist in finding or identifying lost relatives, it could be used for anyone. Even retailers have entered the market, offering a home DNA storage kit for only $29.99.

In 2006, the New England Historic Genealogical Society published an article by Edwin M. Knights, M.D. entitled “DNA Banking for Medical Information.” In the article, Dr. Knights makes the following comment:

“For an increasing number of disorders there is urgent need to store DNA from elderly members of the family or affected persons whose life expectancy is reduced. We would go much further, as we feel strongly that DNA information is becoming so important that DNA should be banked from every elderly adult who has had children. This is particularly true because so many are now choosing cremation rather than traditional methods of burial, in which case DNA evidence is lost forever. It is becoming increasingly important for descendants to know what DNA they have inherited in order to modify or prevent subsequent serious medical conditions in future generations. Of course DNA also provides a priceless resource for genealogical pedigree studies. This objective can be achieved easily if we enlist the cooperation of funeral directors.”

DNA Storage in Other Countries:

Storage of a deceased person’s DNA is also being offered in the UK. According to Avi Lasarow, founder and director of DNA Bioscience Today, “in the UK the cremation rate is 73%, and the public need to be aware that there is a real need to store this vital piece of medical information.”

Interestingly, Mr. Lasarow also suggested that Funeral Homes might be liable for NOT offering DNA storage. “Given the importance of DNA preservation and knowing that upon cremation and most likely embalming that there will be no possibility of getting samples, we are beginning to wonder if there is an implied responsibility among funeral directors to make families aware of this service,” Lasarow said.

So it appears that DNA storage is being offered by funeral directors and retailers around the world. But it raises a few important questions – how necessary or useful is a dead person’s DNA, and is the retrieval of DNA from someone who has not given consent ethical? We’ll look into this tomorrow.

Companies that Offer DNA Retrieval and/or Banking:

1. DNA Safe Storage

2. DNA Connections

3. DNA Analysis

4. Genetic Identity

5. GeneSaver

6. PRO-DNA

7. DNA Diagnostics Center

8. DNA Products

9. Heritage DNA

10. DNA Genetic Connections

11. Legacy Biogenetics

12. Beta Genetics

13. Affiliated Genetics

14. GeneTree

15. GeneLink

16. DNA Bioscience

For More Information:

• Genethics.ca
• NEJM
• National Society of Genetic Counselors

A study in the September Journal of Field Archaeology analyzes mtDNA that was isolated from Native American aprons and from quids – chewed plant material.  From an article in science:

“The quids and aprons belonged to a vanished tribe that archaeologists call the Western Basketmakers. Between about 500 B.C.E. and 500 C.E., they lived in caves and rock shelters in what is now southern Utah and northern Arizona.”

“They pulled mitochondrial DNA from 48 quids and from 18 aprons that had been stained with what was likely menstrual blood. Then they scanned the DNA for various molecular markers called haplogroups, which appear in different frequencies in different parts of the world.”

The researchers discovered that 14% of the samples belonged to Haplogroup A.  They also point out that museum and university collections have many sources of Native American DNA (such as quids, textiles, and cigarettes).

I’ve written about GINA at least twice before.  GINA, or the Genetic Information Nondiscrimination Act, is a piece of legislation that would protect individuals from discrimination based upon their genetic information by employers or insurance companies.

I just learned at the PCD Foundation Blog that a “hold” has been placed upon GINA in the Senate.  The bill flew through the House of Representatives, and President Bush has said that he would sign the bill into law, but it is now stuck in the Senate.  Senator Tom Coburn, M.D., A Republican from Oklahoma, has placed the Hold on the bill.  According to Senator Coburn’s Wikipedia article:

“According to the Boston Globe, Tom Coburn has blocked passage of the Genetic Information Nondiscrimination Act (GINA), a bill that would prevent health insurers and employers from using genetic information in decisions of employment or insurability. Senator Coburn objected to provisions in the bill that allow discrimination based on genetic information from embryos and fetuses. Recently, the Boston Globe stated that the embryo loophole has been closed, and that Tom Coburn is reevaluating his opposition to the bill^.”

The Boston Globe story is here.  There are also press releases (here and here) on Senator Coburn’s website that state his position.  And finally, the most recent information is from The Buffalo News.  You can email (form) Senator Coburn to let him know your opinion.

Some interesting news in the field of personal genomics:

• A terrific article by David Hamilton at VentureBeat Life Sciences about Navigenetics, a new competitor for personal genomics business.  However, Navigenetics has stated that rather than being a direct competitor to 23andMe, the companies can compliement each other.  According to the article:

“Navigenics essentially intends to get people to have their genomes scanned in a rough-and-ready fashion — in other words, they’ll scan your genes with chips that look for single-letter variations in the genetic code, instead of laboriously reading it out letter by letter — and then to match up what they find with the latest information on the diseases to which your genes might predispose you.”

•  Misha Angrist, the 4th member of the “First 10“, has started his own blog at genomeboy.com.

• Esther Dyson was interviewed on the Charlie Rose Show last week, talking primarily about the Personal Genome Project and her membership in the “First 10.”  Find out more at The Personal Genome.

The results of a Y-DNA test are either a string of plusses and minuses, or a series of numbers. The plusses and minuses are the result of a SNP (single-nucleotide polymorphism) test and denote the testee’s Haplogroup, while the string of numbers are the result of a STR (short tandem repeat) test and denote the testee’s haplotype.

To learn more one’s haplotype, or to compare it to other’s results, most people enter those results into a database such as Ysearch, Ybase, SMGF, YHRD, or the Y-STR Database. To do this, however, it is sometimes necessary to ‘normalize’ the numbers. For instance, one testing company might find a result of 27 for DYS481 while another finds a result of 23 on the same individual. This is typically due to different sequencing primers used by each company to characterize each particular STR.

Thanks to a post on the DNA-NEWBIE mailing list (if you are interested in genetic genealogy and not yet a member of this mailing list, you can sign up here), I learned of a spreadsheet that contains conversion numbers for many of the genetic genealogy testing companies:

“For you to be able to derive meaning from your results, you need to compare them to others’ results. Jim Pearsall, a genetic genealogist who has been tested by several DNA companies…compiled the following table of adjustments based on the reports provided to him by the companies.”

You can use this chart to convert the markers from one company into the nomenclature of a second company. There is more information about STR conversions at Ysearch and at Ybase.

HT: Justin Ryan posted the link to Mr. Pearsall’s conversion document to the DNA-NEWBIE mailing list.

Dogs, just like humans, have interesting genealogical histories. And a new DNA test unveiled by DNAPrint Genomics will help you examine your dog’s genetic past. The test is aimed at uncovering the relative percentages of four ancient ancestral breeds in a modern dog – wolf-like, herders, hunters, and mastiff. The test, which will retail for $99, examines 204 canine Ancestry Informative Markers (AIMs) in the dog genome. For more information, go to www.doggiednaprint.com (not working as of 08/18).

“The test will contain a consent form, mouth swabs, swab envelope, as well as a return envelope. Simply fill out the consent form, follow the step-by-step cheek swab instructions and send the completed consent forms and test swabs in the enclosed return envelope. Within six to nine weeks, participants will receive the results of their dog’s DNA test. These will include raw genetic data, a graphic depiction of the animal’s DNA plus information on how to interpret the results of this DNA test.”

The test also represents a new venture by DNAPrint – a DNA database. Pet owners will be allowed to compare their dog’s score to DNAPrint’s database of purebred and mixed breeds to allow accurate breed identification. I think this is a great move, because one of the most interesting aspects of DNA testing is the ability to compare the results to a database, or to another person.

So I guess my only question is, how do you get a dog to fill out and sign a consent form?

HT: Hsien at EyeonDNA.

An article in today’s New York Times discusses some of the major players in genealogy, including the Generations Network, a brief mention of DNA testing, and the Family History Library in Utah.
Although the article, “Latest Genealogy Tools Create a Need to Know” is hardly groundbreaking or thorough, it might be interesting to those who are new to genealogy.

HT: Tim at Genealogy Reviews Online.  Thanks Tim!

Earlier this week, there was a lot of coverage of Spencer Wells’ interview on the Colbert Report. Spencer Wells, of course, leads the Genographic Project.

Epidemix has the video on his blog, along with the video of last month’s interview with Craig Venter. EyeonDNA has a brief review , and it got a mention on Megan’s Root World. If you have a moment, hop over and watch the video.