The Genetic genealogistaineT Bettinger, Ph D10 DNA Testing Myths BustedORiginally posted October 25, 200The GeneticGenealogist1 Genetic genealogy is only for hardcorer wondered aboofancestral line, then genetic genealogy might be anteresting way to learn more Although DNa testinga single line, such as through an mtDNA test, will only examine one ancestor out of 1024 potential ancestors at 10Is ago thisoff you addfather's Y-DNA this is a200%improvement Now add your mothers mtDNA, and so on However, please note the next myth2
I'm going to send in my DNA sample and get back my entire family treealone cannot tell a person who their great-grandmother was, or what Italian village their great-greatgrandfather came from Genetic genealogy can be an informative and exciting addition to traditonal research and cansometimes be used to answer specific genealogical mysteries3 I would like to try genetic genealogy, but I'm terrified of needlesGood news! Genetic genealogy firms don't use blood samples to collect cells for dNa testing Instead these companiesend swabs or other means to gently obtain cells from the cheek and saliva4 I would like to test my ancestor's DNa, but they died years agoYou dont always need your ancestor's dNa to get useful information from a genetic genealogy test If you are maleon Both males and females have mitochondrial DNA(mtDNA), which was passed on to them by their mother"bou contain the Y-chromosome(Y-DNA)that was given to you by your father who received it from his father, and
The Genetic genealogistaineT Bettinger, Ph D3eceived it frortains DNA (Y-DNA and / or mtDNA)can be studied by genetic genealogy5 I want to test my mother's fathers Y-DNA, but since he didn't pass on his Y-chromosome to mymother Im out of luckrong! There is a very good chance that there is another source of that same Y-DNA For instance, does your motherhave a brother (your uncle)who inherited the Y-DNA from his father? Or does your mothers father have a brother(your great-uncle) who would be willing to submit DNA for the test? Sometimes there might not be an obyous sourcef“lost”Y-DNA,the family is willing to take a dna test The secret to solving this problem is to do whavery good genealogist does- use traditional genealogical research(paper records, census information, etc)to"tracehe dna" follow the line back while tracing descendants in order to find someone who is interestedn learningabout their Y-DNA This applies to finding a source of mtDNA as we6 Only men can submit DNA for genetic genealogy tests, since women do not have the y-chronWrong! Most genetic genealogy testing companies also offer mtDNa testing
Both men and women have mtDnA intheir cells and can submit that dna for testing In addition, women can test their father's or some other male relativesdNA to learn more about their paternal ancestral line, even though they did not inherit the y-chromosome7 My genetic genealogy test will also reveal my propensity for diseases associated with the ychromosome and mtDNAWrong, thank goodness Most of the information obtained by genetic genealogy tests has no known medical relevancnd these firms are not actively looking for medical information It istant to note however that some medica(such as infertility detected by DyS4 64 testing or other diseases detectable by a full mtDNA sequenceht inadvertently bed b8 I don't like the thought of a company having my DNa on file or my losing control over my dNa sampleimmediately destroyed once the tests are run, or it is securely stored for future testing If the DNa is stored, memitmThis is, of course, an understandable concern However, most testing firms give a client two options: the dna is eithe
The Genetic genealogistaineT Bettinger, Ph Dwill typically destroy the dna upon request If the lcompany' s policy before sending in a sample9 If my test reveals Native American ancestry, i plan to join a particular Native American affiliationgroupAlthough genetic genealogy can potentially reveal Native American ancestry(for instance, my mtDNa belongs to theNative American haplogroup A2), it is incredibly unlikely that this information will be sufficient to positively identifyhe specific source of the lineage(such as a tribe or allow membership in a particular Native american affiliation10
My DNa is so boring that genetic genealogy would be a waste of time and moneyVery wrong! A person's DNA is a very special possession -although everyone has DNA, everyone 's dna is different(okay, except identical twins- if your identical twin has been tested, you should think twice about buying the sametest! ) As humans settled the world, Y-DNA and mtDNA spread and mixed randomly As a result, it is impossible toguess with 100% assurance that a persons y-DNA or mtdna belongs to a particular haplogroup (a related family ofBONUS MYTH: My genetic genealogy test says that my mtDNa belongs to Haplogroup A2 Juanita the IceMaiden, a frozen mummy discovered in the Andes mountains in Peru, also has aplogroup a2 mtDNATherefore, she must be my ancestsister, orbeon is a nough genetic genealogy can reveal that a person is rElated to an ancient DNA source, it cannot proveUnfortunately althesister, or her 5th cousin Thus, although Juanita might be your great-great-great-great great-grandmother, she mightstead be your great-great-great-great great-aunt and since Juanita died when sheunlikely shef you understand the risks associated with genetic genealogy(such as the detection of non-paternal events )and otherrisks)and are ready and willing to embrace the results to learn more about your genetic ancestry, then genetic genealogynight be forI recommend that you read archived posts here at The Genetic Genealogist, and do some online researchthrough one of the many companies that offer genetic genealogy testing
The Genetic genealogistaineT Bettinger, Ph DTo Sequence or Not to Sequence- That is the Question(Originally posted October 15,200An article appearing Sunday at Bloomberg com, "Cheap,Detailed Genetic Testing Might Soon Be Ready for \oNA Genealogistket",The Geneticsequencing
The article is a response to three studiesiblished at Nature Methods which reportedly " exploreheap technologiesdecipher and analyze individualpatients' dna by allowing researchers to quickly find themall portions of the human genome that make protein anddescribe them while discarding irrelevant dataAccording to the author of thecombearticlecomplete" DNA sequencing for as little as $300 could beready within months Although it is unclear what the authorneans by"complete, it is entirely foreseeable that SNP testing will soon be available for a reasonable priceAll this leads to the question which is so hotly debated in the blogosphere -if inefficientsequencing becomes available to the average consumer, should they get their genomesequenced?As the article points out, there are already around 1, ooo different dna sequencing tests which range in price from $200to $3, 000 However, Cathy wicklund, the presidere National Society of Genetic Counselors, believes that peopleshould "think hard before asking for complete genome testingJust because we have the technology doesn t necessarily mean that we should jump to offer it, she said Consumersshould ask themselves, What is this going to tell me, is it going to give me information thats helpful right now?here are a numberg voices in this arena, others who believe that genomic sequencing without further extensivestudies that link genotype and phenotype is useless and potentially harmful to any consumer who does not have a strong
The Genetic genealogistaineT Bettinger, Ph D6metics background Although i respect this position, i believe that attempting to ward people away from gesequencing will prove to be ineffective Genetics is about to leave the hands of the medical professional, and theresnothing we can(or perhaps should) do about itFortunately or unfortunately, the wave is coming In just months or a few short years, anyone will be able to open anfrom thefirst nucleotide to ththe question is not whether people should get their genome sequenced- because they invariably will-butrather what can be done to educate consumers with a background in genetics, I know better than mgtonsumers all the dangers that my genetic sequence will reveal
But I'll still be ready to swab my cheeks the instafford a complete geneIs there really no proper place for the average non-geneticist, non-physician-assisted consumerarket? What if i cant afford a genetic specialist- should i be denied the opportunity to sequence my genome? What ifny health insurer refuses to pay for genetic sequencing? Should only the knowledgeable or the rich be allowed to learnI would argue that t
here is a place for the "early consumer Early consumers are the pioneers, the curious who doomething because it is new and exciting and they want to learn more about the technology and about themselves Forinstance, there are so many people that get into genetic genealogy even though they don t know the first thing aboutlearn more(and helping educate them is exactly why I started The Genetic Genealogist in the first place), Lue e ttempt togenetics When they get their results back, they do what the human mind was designed to do-they go out andare already others who are leading the consumer education frontAll new technology comes with risks Even genetic genealogy, the sequencing of a few SNPs or a few 100 base pairs, canreveal unexpected or unwanted results But should the risks really cause so much fear and caution? We are who we areegardless of whether or not we get sequenced Sequencing just arms us with information that could, now or in the futurebe useful for me the benefitsWeigh the riskn my opinion, the answer is to educate, educate, educate Convincing people that their genome is scary or useless willdissuade very few from sequencing and will likely only alienate the pioneersThe Genetic genealogistaineT Bettinger, Ph DTop 5 Reasons to Save Your Grandmothers DNA(Originally posted May 10, 2007)You got those big blue eyes from your grandmother but chances are you inherited less desirable genesas wee inherit our DNA from our parents, who inherited it from their parents Since we all possess genes that cancause or contribute to disease, knowing one's dna and family medical history can be a great resource for someone wholearns they have a genetic disorder2 Full genome sequencing is right around the corner The X-prize quest for the $1000 genome will lead toefficient and affordable whole-genome sequencing As commercial companies crop up and compete for customersbusiness, leading to even lower prices3 Your grandmothers DNA contains clues to her ancestry
X-chromosome, mtDNA, and autosomal genealogytests contain clues to a person 's ancestry both recent and ancier4 Even if you arent interested in this whole genetic genealogy craze, somebody you know will beGenealogy is one of the most popular hobbies in America, and the use of dNa to augment traditional genealogicalesearch is growing faster than ever Chances are that someone you know willoneday be interested in yourandmother's dnal5 All the undiscovered possibilities No one knows what uses will be discovered for DNA in the future Save thatst in caDisclaimer: Some people are very uncomfortable with the thought of gathering and storing a loved ones dnA, and thosebeliefs should be honored and respected It is alWAYs best to obtain your grandmother's permission before you gatherher dna so don t delay call her now
The Genetic genealogistaineT Bettinger, Ph D8Famous DNA Review-Genghis Kharposted May 21, 2007)n 2003, researchers from around the world released a paper that suggested that 8% of all Mongolian males haommon Y chromosome because they are the descendants of genghis Khan( See" The genetic Legacy of the mongols2003, Zerjal, et al, american Journal of human Genetics, 72: 717-721) The researchers examined the y chromosomevariability of over 2000 people from different regions in Asia and discovered a grouping of closely related lines Thecluster is believed to have originated1,000 years ago in Mongolia and its distribution coincides with the boundariesof the mongol eGenghis Khans empire(he ruled from 1206-1227) stretched across Asia from the Pacific Ocean to the Caspian Sea andwas reportedly extremely prolific Khans son Tushi had as many as 40 sons
His grandson Kublai Khan is reported to havehad as many as 22 sons, and perhaps many more Together this family may ha6 million descendants alivein Asia today It is extremely important to note that until dNA can be extracted from Khan's bones(whichhave never been found), there is no definitive proof that this y chromosome cluster is actually descendedfrom Genghis khanWhen Family Tree Dna compared the markers in the paper to their database, they determined that the y chromosorcluster belongs to Haplogroup C3(M217+) Forty-seven samples in their database at that time exactly matched thenarkers identified in the paper The company has summarized the marker results from the paper and have made thata newly released study from Russian scientists examined the y chromosomes of 1, 437 men from 18 Asian ethnic groups(Altai Kazakhs, Altai-Khizhis, Teleuts, Khakasses, Shor, Tuvinians, Todjins, Tofalars, Soyotes, Buryats, KhamnigansEvenks, Mongolians, Kalmyks, Tajiks, Kurds, Pend Russians) The researchers discovered that approximately 35%of Mongolians possess the"Khan"Y chromosome Surprisingly, the results of the study suggest that although the mongolEmpire held eastern Russia for 250 years, there are few "Khan"Y chromosome carriers in that regionYou can read more about the 2007 study at UK Channel 4
The Genetic genealogistaineT Bettinger, Ph DYou and the 1000 Genome-Part I: The archon X PrIzE for genomics(Originally posted May 22, 2007)The Archon X PRIZE is a challenge from the archon X PRIZE Foundation to foster the development of efficient andan enormous inpact on the field of genetic genealogy, which we ' ll discuss in Part iv of this series e, but it will also haveexpensive genomic sequencing Not only will the X Prize for Genomics change the face of medicineHistory of the Archon X PRIZE for Genomicsn 2003 the J Craig Venter Science Foundation announced a $ 500, 000 genomic Technology Prize that would be awardedto an the group whose technology significantly enhanced "the field of high throughput dNa sequencing by enabling ahuman genome to be sequenced for $1, 000 or less The Foundation believed that crossing this threshold would enableajority of individuals to afford geras part of medical treatmen06, Dr Ventor's $1000 genome challenge was picked up by the X PRIZE Foundation to create the archon X prizefor genomics, a $10 million dollar incentive for the first successful team To win the prize purse, the registeredgroup must build a device and use it to sequence 1oo human genomes within 10 days or less, with anaccuracy of no more than one error in every 100, ooo bases sequenced (thats just ooo1%!! for no morehan $10, ooo per genome
As of May 2007 there are three teams registered for the competition; VisiGen, 454 LifeSciences, The Foundation for Applied Molecular Evolution (FfAME), and Reveo, Inc If you're curious, GenomicsProteomics Magazinles that are bRIZE (very technical information)n august 2005, the National Human Genome Research Institute announced that it had awarded grants in excess of $32romote the deofthathe cost of wheequencing At the time, it cost roughly $10 million to sequence a human genome(a 50-fold decrease from the previosecade), and the nhgri set a final goal of $1ooo or less for an entire genome As the nhgri pointed out, the ability tosequence an individual genome cost-effectively could enable health care professionals to tailor diagnosis, treatment, andprevention to each persons unique genetic profileFour years later, has there been progress454 Life Sciences,cample, has just announced in March that they have essentially completed sequencing of james
The Genetic genealogistaineT Bettinger, Ph DWatsons genome, arguably the first time a single pegenome has been sequenced (the hource of dNa was reportedly an amalgam of different sources) For those that don' t know(can there be anyone?), Jamesatson is famous for having discovered the structure of dna over so years ago Interestingly, watson has asked454 to withhold his results for the apoe gene-associated with alzheimers disease -as well as a numberfother results, citing privacy concerns Watson, after all, has a son who received 50% of his genetic makeup fromWatsonse In light of this, 454 has decided to hand over the results to watson, who will then decided what to2007: Vol 315 no 5820, p178ODOI: 101126/science 315
58201780) 454 estimates that the six-fold coverage archrelease to the public See Marshall, Eliot, "Sequencers of a Famous genome Confront Privacy Issues" Science 30Watsons genome cost an estimated $1 million Still a long way to go to reach the $1000 goalMeanwhile, Reveo, Inc just joined the competition on april 3oth of this year, but Reveo's founder, Dr Sadeg M farisbelieves that their technology will eventually be able to read an entire human genome "in minutes for pennies pergenomehe X PRiZE Foundation has released a video that explains the aims of the project In the next post i will be examiningwhether or not the $1000 genome is really necessary considering recent developments in a related field