The Genetic Genealogist

1. Who is GINA?
GINA isn’t a ‘who’, it’s a ‘what’. GINA stands for Genetic Information Non-Discrimination Act.

2. Okay, what is the Genetic Information Non-Discrimination Act?
GINA aims to protect individuals in a variety of different areas. The legislation would prohibit access to genetic information by insurance companies and would prohibit insurance companies from discriminating against an applicant based on genetic information, the refusal to submit genetic information, or for have been genetically tested in the past. Additionally, the Act would prohibit employers from using or collecting genetic information to make employment decisions. The Act also establishes a Genetic Nondiscrimination Study Commission that is charged with reviewing new developments in the field of genetics and advising Congress.

To learn more about GINA and to follow GINA as it progresses through the Senate and ultimately to the President’s desk for his signature, check out the GINA page on Congresspedia. I had never heard of Congresspedia, but it is a great resource for following and learning about pending legislation in Congress.

3. What does GINA consider to be “genetic information”?
Interestingly, GINA considers the term “genetic information” to include an individual’s genetic tests, AND a family member’s genetic tests! (Note that GINA defines a “genetic test” as “an analysis of human DNA, RNA, chromosomes, proteins, or metabolites, that detect genotypes, mutations, or chromosomal changes.”). Family members include dependents, and relatives out to the first-, second-, third-, and fourth-degree!!
Thus, your employer could not test any relative out to and including your third cousin. Third cousins share a common great-great-grandparent. (For a chart explaining degrees of cousins, see the Table of Consanguinity at Wikipedia.)

4. Where can I read the text of GINA (if I were so inclined)?
The full text of the current version of the bill is available at GovTrack.us.

5. Do we really need a federal act to protect against genetic discrimination?
In a press release announcing the introduction of GINA in the House of Representatives, sponsor Representative Louise M. Slaughter (D-NY) listed a number of reasons that GINA was necessary, including:

- In the 1970’s African Americans were denied jobs and insurance based on their carrier status for sickle cell anemia;

- In 1998 Lawrence Livermore Laboratories in Berkeley was found to have been performing tests for syphilis, pregnancy, and sickle cell on employees without their knowledge or consent.

- In 2000 the Burlington Northern Santa Fe Railroad performed genetic tests on employees without their knowledge or consent.

In my opinion, Rep. Slaughter made one of the most convincing arguments in support of an act to prohibit discrimination based on genetic information:

“There are currently over 15,500 recognized genetic disorders affecting 13 million Americans, and every one of us is estimated to be genetically predisposed to between 5 and 50 serious disorders.” Testimony before the House Committee on Education and Labor on January 30, 2007 (available here).

6. You mean my genetic information isn’t already protected?
Maybe, but possibly not. 34 states have passed legislation to protect genetic information, beginning with Wisconsin in 1991. New York, for example, has fairly comprehensive legislation which forbids an employer from requesting, requiring, or performing genetic testing and prohibits an employer from making employment decisions based on genetic information. A complete table of state-by-state legislation is available at the National Conference of State Legislatures.

7. Who supports a genetic non-discrimination act?

- The general public: In 2004, 92% of people surveyed by the Genetics and Public Policy Center at Johns Hopkins University did not want employers to have access to their genetic information. A total of 80% thought that health insurers should not have access to their genetic information.

- Healthcare professionals: A recent survey of genetic counselors found that 68% would not seek insurance coverage for a genetic test because of the fear of discrimination. 25% said that they would use an alias to obtain a genetic test to reduce the risk of discrimination.

- Legislators: The Senate has previously and unanimously passed a similar bill, and the President has indicated that he supports the legislation to prevent genetic discrimination.

8. Why are we talking about GINA now?
On April 25, 2007, GINA passed the House of Representatives with a vote of 420 in favor to 3 opposed. You can see more about the results of the voting at the Washington Post Votes Database. Additionally, “The Personal Genome” has a youtube video of Representative Slaughter testifying before the House on the day the bill was passed.

9. Who voted against GINA?
There were 9 Representatives who did not register a vote, and there were 3 Nay votes. The Nay votes were cast by Representatives Jeff Flake (R-AZ), Ed Royce (R-CA), and Ron Paul (R-TX). I was unable to find a press release for any of the three Representatives stating why they might have opposed the bill.

10. Can I read a full report of the congressional proceedings when GINA was passed?
You betcha! “The Personal Genome” has been so kind as to provide a pdf of the full proceedings(pdf) from the Congressional Record on April 25^th.

11. So what happens to GINA now?
Now that GINA has passed the House of Representatives, the bill progresses to the Senate for consideration (Do you remember the entire process from the Schoolhouse Rock “I’m Just a Bill”?). On April 26^th the bill was received in the Senate and read for the first time. It normally takes time for a bill to proceed from a first reading to a vote – GINA was introduced in the House in January, for example.

12. Can I read more about GINA in the press?
There is more information about GINA at Wired, Wired Science, The Gavel, Daily Kos, and the Genetic Alliance (pdf).

I was unaware that today is actually DNA day.  Learn more here.

“National DNA Day is a unique day where students, teachers and the public can learn more about genetics and genomics! It was created to commemorate the completion of the Human Genome Project in April 2003, and the discovery of DNA’s double helix.

Students and teachers nationwide can celebrate DNA Day and learn more about genetics and genomics through the National DNA Day activities available on these pages. NHGRI offers an online chatroom, a library of webcasts featuring genomic researchers, interactive teaching tools and an opportunity through our Ambassador program to invite a real-life genomic researcher to talk to your students.”

If you’re a regular reader of this blog, then you know that I am a strong proponent of genetic testing for genealogical purposes. I believe that when used correctly genetic testing can serve as a valuable tool in the genealogist’s toolbox.

A recent visitor found my blog with the search term “is genetic genealogy a scam?” When I recreated the search, I discovered that a previous post on this blog is the leading link for this search. The process made me think about the many people who are skeptical or wary of genetic genealogy. As a scientist, I appreciate and encourage healthy skepticism. After all, genetic genealogy has been available for less than a decade, and it has changed considerably since it was first offered. I believe that anyone who forays into the world of genetic genealogy should have a basic understanding of the science and the application of the results. Just reading about genetic genealogy in the media can give one a distorted view of the technology. Along this point, I recommend reading an interesting article by Rebecca Skloot (author of the upcoming book “The Immortal Life of Henrietta Lacks,” which I can’t wait to read). I was referred to that article by a post on her blog (Culture Dish) entitled “The Bogus-ness of DNA Testing for Genealogy Research” in which she reiterates the point that genetic genealogy tests “simply can’t tell you anything definitive about your heredity unless you’re testing your DNA and comparing it to someone else’s to find out if you’re related.”

I agree with Ms. Skloot – the skepticism and wariness about genetic genealogy comes from the interpretation of the results. As a scientist, I believe that a DNA sequence is a DNA sequence and a person can’t argue with those results. But, using that DNA sequence to tell a person that they are 50% Native American is the type of data interpretation that should be viewed skeptically. It can be exciting, but the science is still too new. For me, the verdict is still out on autosomal testing (click on About Genetic Genealogy at the top of the page to learn more about autosomal testing).

On the other hand, I strongly believe in mtDNA and Y-DNA testing. The results are nothing but DNA sequence and an approximate haplogroup determination. These tests CAN tell you if your Y chromosome or your mtDNA is Native American or distinctly European. The information from these test can serve a multitude of functions. For example, I run a surname project to determine if all people in North America and Europe with my surname are descended from the same German family. I am able to answer this type of question using genetic genealogy as a tool.

Genetic genealogy best serves people who are ready for genetic testing to add to their basket of knowledge. It is not as well suited for people who have no experience in genealogical research or who know nothing about their past (unless, of course, they are unable to know anything about their past – then it’s perfect), although it can still be a useful tool for the beginner.

Genetic genealogy is definitely not a hoax. DNA sequence can be a very useful and exciting addition to a genealogist’s research, IF that genealogist is aware of meaning and consequences of genetic testing. If you have any questions or thoughts about the usefulness of genetic genealogy, leave a comment below.

Note: When writing this post I attempted to find other online sources or blogs that had discussed this topic.  Unfortunately, I failed to discover a fantastic review of the subject written by Megan Smolenyak Smolenyak at the Family History Circle (available here).  If your interest was piqued by my post, please be sure to read hers.  Interestingly, the format of the posts are remarkably similar and both mention the article and blog post by Ms. Skloot (although in much more detail at Family History Circle)!  Nothing like re-inventing the wheel!

This article is appearing in newspapers across the country (In the Rocky Mountain News [Thanks to Tim] and USA Today [Thanks to Megan]).  Martin Marshall never believed that his father was actually his biological father, and testing has shown that he is not related to at least one of his brothers.  Marshall then underwent Y-DNA testing in the hope of learning more about his father’s lineage.

“Marshall logged into an Internet database. He entered his DNA profile, and was astounded to find that virtually every person who closely resembled him genetically was named Sizemore.”

To date, Marshall does not know who his father was, but he is hoping that eventually the mystery will be solved.

Want to know more about DNA, DNA replication, and mutations? Here are few videos that I thought might be helpful. Seeing a 3D animation of a biological process can be even more informative than reading about it.

1. DNA Structure I

2. DNA Structure II (a little more technical)

3. DNA Replication

4. PCR – Polymerase Chain Reaction

5. DNA Mutation

6. Genetic Diversity

7. SNPs

8. Haplotypes

9. Mitochondrial DNA Inheritance

10. Mitochondrial Eve:
Click here to view.

And finally, because it’s just too cool not to include:
11. The Inner Workings of the Cell

In 2005 the Wellcome Trust established a £2.3 million project (roughly 4.5 million USD) at the University Oxford to examine the genetic makeup of the United Kingdom. The project would be led by the renowned geneticist and Oxford Professor Sir Walter Bodmer, joined by Oxford Professor Peter Donnelly (a population genetics and statistics expert) and the Wellcome Trust Principal Research Fellow Professor Lon Cardon.

The goal of the project is to establish a knowledge base for analyzing genes that are linked to disease. To do this, the researchers hoped to gather DNA from 3000 to 3500 volunteers throughout the UK who live in the same area as their parents and grandparents. Each volunteer’s DNA will be tested for 2000 SNPs (single nucleotide polymorphisms). The data will be combined with each volunteer’s medical history in the attempt to find a link between genetic make-up and the inheritability or susceptibility of a number of diseases such as diabetes and Alzheimer’s. The data will also be used to isolate DNA sequences that characterize the founders of each region of the UK, be they Viking, Saxon, or Celt.

“Our aim is to characterise the genetic make-up of the British population and relate this to the historical and archaeological evidence,” says Professor Bodmer. “We are collecting samples from people in rural areas with all four grand parents from the same area so as to avoid the recent mixing up of populations in urban areas and to reach back in time as far as possible.

“Our samples will provide a valuable control for studies on disease susceptibility which depend on comparing the frequency of genetic markers in disease groups with that in control groups. If we are able to eliminate genetic markers linked to geography rather than disease, then we should be able to minimise the risk of finding spurious associations.”

To date, the researchers have collected approximately 1,500 samples and have analyzed the Y chromosomes of the male volunteers. The M17 variant of the Y chromosome, for example, is found in 20% of people from Norway but is very rare elsewhere in Western Europe. In the Orkney Island, almost 30% of the tested males have this variant, suggesting that the Norse Vikings settled the Islands. Surprisingly, the M17 variant is not found in areas where the Danish Vikings settled, supporting the conclusion that the Norse and Danish Vikings were genetically different.

Another interesting conclusion of the study so far is that two rare versions of the Mc1r gene occur at a much higher frequency in those areas that were settled by the Celts than in those areas settled by the Anglo-Saxons. These alleles of Mc1r are found in Scotland, Wales, Ireland, and regions of southwest England and are associated with red hair. In fact, Mc1r (melanocortin-1 receptor) is a member of the G-protein-coupled receptor family of proteins and it functions at the surface of specialized pigment producing cells called melanocytes. It is one of the key proteins in regulating hair and skin color.

Faces of Britain on Channel 4:

The researchers have also begun to present some of their findings to the public via the television series “Faces of Britain.” Last Saturday, April 14^th, Channel 4 in Britain aired a program that highlighted the study’s current findings.

The findings, according to the program, supported the idea that the Viking invasion of Britain was predominately from Danish Vikings while the Orkney Islands were settled by Norse Vikings. Additionally, the results suggest that the Cornish people are a Celtic race that are more closely related to the Welsh than to their British neighbors (or should I say, neighbours).

The next Faces of Britain will be aired this Saturday, April 21^st, but if you hurry you can watch the previous episode online for free (until Saturday) at www.channel4.com/od/.

Faces of Britain – The Book:

The study has also resulted in a book published in January of this year – “Face of Britain: How Our Genes Reveal the History of Britain” by Robin McKie. The book is available on the UK version of Amazon but I couldn’t find it here in the U.S.

Here is the publishers synopsis:

“Written into our facial features is a story going back generations. It is the story of who we are and where we are from – the history of Britain through war and conquest, migration and racial integration. The Channel 4 series, The Face of Britain, begins with the largest ever research project into the genetic make-up of the British public. The Welcome Trust has given a GBP2million grant to Oxford geneticist Sir Walter Bodmer to take DNA samples from hundreds of volunteers throughout Britain and find tell-tale fragments of DNA that reveal the biological traces of successive waves of colonisers – Celts, Saxons, Vikings, etc. – in various parts of Britain. These traces in part determine our facial features. In effect, this project will produce a genetic map of our islands revealing where today’s Cornish or East Anglians originally came from. The project is unique in that it uses cutting edge technology to question our accepted notions of our history. Added to this, the series and the book will meld science, history and personal stories to investigate our linguistic history, our surnames and placenames and compare findings with the results of the Bodmer study. The Face of Britain will be a launch pad to explore Britain‘s earliest history while investigating why we look the way we do.”

Thanks to SpiritIndia.

Yesterday the producers of last year’s popular PBS series “African American Lives” and “Oprah’s Roots” announced that they are seeking applications from people who are interested in participating in “African American Lives 2.” The producers plan to air the program in February 2008, and it will once again be hosted by Henry Louis Gates Jr. One lucky participant will have their genealogy mapped through a combination of traditional genealogical research and DNA analysis. You can read the full press release here.

Note that applications must be submitted by submitted by 6:00 PM on Friday, May 4, so if you believe that you have “discernible (or at least anecdotal) African ancestry”, as the FAQ section states, you should apply immediately. This type of dedicated research is undoubtedly worth thousands of dollars and could be an amazing opportunity.

I have previously written about African American Lives here and here.

The Guardian, a newspaper based in England, recently published an article about genetic genealogy entitled “The appliance of science.“ It’s an interesting article that looks at the pros and cons of genetic testing for genealogical purposes.

The journalist quotes Chris Pomery, author of the up-coming book “Family History in the Genes: Trace Your DNA and Grow Your Family Tree.”

“In specific cases, genetics is a very useful tool, but it is not a panacea,” he says. “We’re not even close to the situation where, if you’re starting to research your family history, you should begin with a DNA test. At £100 or so a throw it’s a lot of money, and you can progress your research a long way first for free.”

I agree completely. Genetic genealogy is most useful for researchers that are attempting to verify a specific relationship, or who want to learn more about the ancient sources of their genetic information (for the Y-DNA and mtDNA tests).

However, as is often the case in these types of stories, there were a number of errors in the story.

“What does it mean, for example, for Oprah Winfrey to announce “I am a Zulu” after having a mitochondrial test?

“It’s nonsense,” says Mark Jobling, a geneticist at Leicester University. “Of course she isn’t a Zulu, she’s a modern African-American woman. It’s like people saying, ‘I’m a Viking’. Of course they’re not a Viking, it’s foolish.”

Oprah Winfrey thought she was Zulu BEFORE the mtDNA test. The test conclusively told her that her mtDNA was NOT related to the mtDNA found among the Zulu people! [Correction: See the comment section for an update regarding Oprah's first mtDNA test, which reportedly DID tell her that her mtDNA was related to the Zulu].

I agree with the author that the results of genetic testing should always be interpreted wisely, and I try to reinforce that point as often as I can. No current genetic test can tell you who you are! Genetic tests can only give you a description your DNA, and based on that you can estimate relationships with others (temporally and geographically).

One of the problems facing the field of genetic genealogy, however, is the number of inaccuracies perpetuated by the media. These articles are often written by non-scientists who don’t completely understand the topic and are making conclusions that aren’t backed up with science.

I recently blogged about some questions that a genetic genealogy newbie had asked about genetic testing. If you have any questions about genetic genealogy, please ask and I will do everything I can to help you discover an answer (that is supported by science)!

Yesterday we began to look at an email conversation I had recently with Jasia from The Creative Gene about genetic genealogy.

Jasia began by asking whether she should test both her and her mother’s mtDNA (I advised her no, because they would be the same sequence), and then we talked about testing her father’s mtDNA. Since her father could not be tested directly, Jasia wondered if her brother could provide a sample of her father’s mtDNA. I explained that although her brother could provide a sample of her father’s Y-DNA, she would have to find other sources for her father’s mtDNA, including her father’s sisters or brothers, or the children of her father’s sisters. She responded:

“Fortunately, my dad came from a large family including 6 sisters 4 of which had children. So I have cousins a plenty and can probably find one of them to help me out with a little saliva

“So is the mtDNA more valuable to the genealogist than the Y-DNA? Does it give more/different information? Would there be a benefit to having my brother’s Y-DNA tested as well as one of my paternal cousin’s mtDNA?”

With lots of sisters and cousins, it looks like Jasia won’t have any problem finding someone willing to help her out with this endeavor. She’s very lucky in this respect – in many families, the sources of DNA either don’t exist or have disappeared forever.

Her next question is also one that many people ask. Why test both mtDNA and Y-DNA? How are the results different and is either test more informational than the other? Here’s how I answered:

“I’m not sure I would say that mtDNA is more informative than Y-DNA, or vice versa. They’re just different. The result of an mtDNA test reveals your maternal lineage all the way back to a haplogroup founder. My mtDNA test, for example, revealed that my maternal lineage belongs to Haplogroup A, a Native American haplogroup. My wife’s mtDNA belongs to Haplogroup H, a European haplogroup.

“The results of a Y-DNA test will tell you much the same thing, except that Y-DNA traces the paternal lineage. The results will put the Y-DNA into a haplogroup family, and that information will tell you about the origin of the Y-DNA. One of the benefits of Y-DNA testing is that it is associated with a surname. There are many surname groups that a person can join once they have the results of their Y-DNA. The theory goes that people with the same surname are more likely to have the same Y-DNA (that is, they are more likely to be paternally related).

“So, each test will tell you something about the line that it traces, either the maternal line or the paternal line. For me, having both pieces of information was fun, mostly for the sake of knowing it and learning more about my own ancient roots.“

Jasia then suggested that I write up the correspondence as a blog post to help out all the other newbies out there. I’d like to thank her for the fun and interesting correspondence, and for the idea and permission to write about it! If you can, I suggest you go check out her site, The Creative Gene.

You can read Part I in this series here.

This week I had a terrific email conversation with Jasia from The Creative Gene about genetic genealogy. She left a comment on a recent post, Discovering My Maternal Roots, which asked:

“I’m a complete neophyte about DNA for genealogy. I’m wondering if there is any reason to test myself, and my mother. Since the mtDNA seems to trace the maternal line… is it enough to test just one of us or is there something to be learned by testing both of us?”

This is a great question, one that many people who are new to genetic genealogy ask. Understanding how mtDNA and Y-DNA are inherited is one of the most challenging aspects of genetic genealogy. I always think of them as mirror images; if you chart your family tree, the Y-DNA travels down the far left line (from your father’s father’s fathers’ father…) while the mtDNA follows the far right line (from your mother’s mother’s mother’s mother…). Here is my response to her comment:

“Thanks for stopping by! In answer to your question, there is usually no reason to test both your mtDNA and your mother’s mtDNA, since it is the same. Only in VERY rare occasions will a detectable mutation arise between generations, and this happens so infrequently that it just isn’t an issue. On the other hand, testing your father would be worthwhile since you did not inherit his mtDNA. It is remotely possible that his mtDNA is the same as yours, but that would be pure coincidence!”

Unfortunately, Jasia was unable to test her father’s mtDNA directly, so she next wondered if there was a way to test someone else who might have her father’s mtDNA:

“Can I assume then that my brother’s DNA would give me the same information as my father’s would have? Would that be a correct assumption?”

My lengthy response explained that her brother could supply their father’s Y-DNA, but not his mtDNA:

“There are two main types of DNA testing – mtDNA and Y-DNA. mtDNA is found inside the mitochondria in all our cells, while Y-DNA is a chromosome that only males possess.

“mtDNA is passed from mother to child, both male and female. Notice, however, that only females pass on their mtDNA. Thus, you and your brother both have your mother’s mtDNA.

“Y-DNA, in comparison, is passed from father to son. Only males have Y-DNA. Thus, your brother has your father’s Y-DNA, but not his mtDNA.

“There are two great inheritance charts here and here that help explain the inheritance of mtDNA and Y-DNA.

“In response to your question, you can test your father’s Y-DNA by asking your brother, but that won’t work for mtDNA. To test your father’s mtDNA, you will need to find someone else who possesses that mtDNA. This could include your father’s mother, or your father’s brothers or sisters (if there are any), or your father’s sister’s children (i.e. your cousins). Note that you cannot test your father’s brother’s children, because they inherited their mtDNA from their mothers, who are not blood relatives to you.

“Absent any of these options, you just need to follow the mtDNA back to someone you can find. For instance, to test my grandfather’s mtDNA, I will have to work my way back through the family tree almost 150 years to find a branch that has a female line!!”

Note that I left out autosomal and X-DNA testing in my description. These are the two other areas of genetic genealogy testing, but they are either so new or so controversial that I decided to leave them out of my description. To learn a little bit more about these two additional types, see the “About Genetic Genealogy” page listed in my header.

Tomorrow we’ll have Part II of Genetic Genealogy Advice for Newbies!