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February 28 is Rare Disease Day – a concept first initiated by the European Rare Disease Organization (EURORDIS) and now recognized around the world. Around 6,800 rare diseases have been identified and up to 80% of them have a genetic origin. 23andMe provides genetic health reports for many of these conditions and also carries out research on a few of them. 
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When it comes to rare diseases, rare is not actually that rare.
Take that one person with <a href="https://www.23andme.com/health/Cystic-Fibrosis/">cystic fibrosis</a>, the other person with sarcoma, and then someone with <a href="https://www.23andme.com/health/Sickle-Cell-Anemia-Malaria-Resistance/">sickle cell anemia</a>. All of these conditions are considered rare, but when you add up all the people with a rare disease you land at “one in ten.” This means that roughly <a href="http://www.rarediseases.org/">30 million Americans</a> suffer from a rare disease.
Definitions can vary, but in the United States the “rare” label is applied to any condition that affects <a href="http://rarediseaseday.us/about/">fewer than 200,000 individuals</a>, or roughly one in 1500. Rare diseases are often poorly understood, with symptoms that can be difficult to diagnose, and can be life-threatening.
Most rare diseases can’t be cured and many lack effective treatments because research is often hampered by a scarcity of study participants and poor funding. 23andMe hopes to change this.
Our <a href="https://www.23andme.com/mpn/">Myeloproliferative Neoplasms</a> and <a href="https://www.23andme.com/sarcoma/">Sarcoma</a> research initiatives are aimed at understanding what causes these conditions, information that may one day help bring about a cure.
Beyond these initiatives we also research rare diseases through the typical customer experience. Individuals come to 23andMe, receive their genetic results, and if they desire, contribute to research by providing information about themselves. Our scientists aggregate this information and draw interesting correlations.
A first-glance finding is that roughly nine percent of 23andMe customers have a rare disease, right on par with the national average of ten percent. Slightly more 23andMe individuals with a rare disease are women.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-17662" title="rare disease" src="https://blog-api.23andme.com/wp-content/uploads/2013/02/rare-disease.png" alt="" width="950" height="306" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/rare-disease.png 950w, https://blogcms.23andme.com/wp-content/uploads/2013/02/rare-disease-300x97.png 300w, https://blogcms.23andme.com/wp-content/uploads/2013/02/rare-disease-768x247.png 768w, https://blogcms.23andme.com/wp-content/uploads/2013/02/rare-disease-880x283.png 880w" sizes="auto, (max-width: 950px) 100vw, 950px" />

23andMe Blog

23andMe Blog Team

One in Ten Lives with a Rare Disease

<img loading="lazy" decoding="async" class="aligncenter wp-image-17535 size-full" title="23andMe Jeopardy Clue" src="http://35.88.189.111/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-scaled.jpg" alt="" width="2560" height="1920" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-scaled.jpg 2560w, https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-1024x768.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-1180x885.jpg 1180w" sizes="auto, (max-width: 2560px) 100vw, 2560px" />
Last week we put up a quiz in the spirit of Jeopardy! after host Alex Trebek made use of 23andMe in one of his game clues.
The time was up last night to make your entry. So here are the answers to our Homage to Jeopardy! Quiz.
Remember you didn’t have to get everything correct to be entered into the giveaway. We’ll announce the two lucky winners on Friday. For more on the rules go  <a href="https://blog-api.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Homage-Sweepstakes-Official-Rules-02.27.13.pdf">here</a>.
In the meantime, you can grade your own tests. We give you an A for effort. 
 
1) The “23” of 23andMe.com, a site tracing ancestry and personal genetic information, refers to pairs of these&#8230;
Too easy. The answer is “What are chromosomes.”
2) Men inherit one copy of this chromosome, while women inherit two &#8230;
If you marked your X on “What is the X Chromosome?” you are correct.
3) This recessive disease is characterized by crescent-shaped red blood cells &#8230;
The correct answer is “What is Sickle cell anemia?”
4) People with two copies of the E4 version of the APOE gene are at significantly increased risk for this disease&#8230;
The answer is “What is Alzheimer&#8217;s disease?”
5) This famous actor founded a Parkinson&#8217;s disease research foundation that partners with 23andMe, Inc&#8230;
The answer is “Who is Michael J. Fox?”
6) This fictional adoptee has appeared on the 23andMe blog to illustrate ancestry features&#8230;
Who is Sheridan?
7) 23andMe was used to analyze the DNA of famous figures on this PBS genealogy series&#8230;
What is &#8220;Finding Your Roots&#8221;?
8) Isolated populations can have higher rates of specific genetic variations due to this phenomenon&#8230;
What is the founder effect?

23andMe’s Homage to Jeopardy!

<img loading="lazy" decoding="async" class="aligncenter wp-image-17706 size-full" title="pd-graphic" src="http://35.88.189.111/wp-content/uploads/2013/02/pd-graphic.jpg" alt="" width="400" height="400" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-372x372.jpg 372w" sizes="auto, (max-width: 400px) 100vw, 400px" />
We’re excited to announce that the 23andMe Parkinson’s Research Community has exceeded its goal, enrolling more than 10,000 people with the disease and creating the largest cohort of genotyped people with Parkinson’s in the world.
Reaching this milestone offers scientists an incredible opportunity to better understand the causes and potential treatments for this neurodegenerative disease.  While we’ve already done important Parkinson’s research, it is what we hope to do in the future that is most exciting for researchers here at 23andMe.
“Having reached this important milestone, the next step for us is to focus on the data that we have collected,” said 23andMe’s Parkinson’s Research Manager Emily Drabant, PhD.  “This is a tremendously rich dataset and we want to learn as much as we can from it.” 
 
23andMe started this initiative four years ago, as a way to accelerate research into Parkinson’s, and we’ve already shown how our model can do just that by quickly replicating known genetic associations with Parkinson’s and discovering <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002141" target="_blank" rel="noopener noreferrer">previously unknown genetic associations with the disease.</a>
Now that we’ve reach this enrollment goal, we can delve into the data to better understand such things as:
&#8211; The relationship between environmental and genetic factors in the development of Parkinson’s. 
&#8211; How those with Parkinson&#8217;s react differently to treatment so that treatments my be better individually targeted. 
&#8211; And, by continuing to engage with our community members – who, through their courage in the face of this difficult illness, inspire us –  we can better understand the disease and its progression.
Our research model offers great potential for the study of many different diseases, but it is ideally suited for studying diseases like Parkinson’s in which patients are limited by their illness.
“The symptoms of Parkinson’s often interfere with motor skills and affect each individual differently, so a traditional approach to research that requires individuals to physically go to a clinical research center can be a huge barrier to participation and data collection,” Dr. Drabant said.  “23andMe provides a unique opportunity for individuals to participate in research at their own convenience. By providing a saliva sample and answering questions online in the comfort of their own homes, individuals are enabling researchers to advance our understanding of how genes and environmental factors may inform the development and progression of Parkinson’s disease.”
And it is the people who are part of our Parkinson’s Research Community, who inspire us in our work with their courage in the face of this difficult illness. We could not have done any of this without each of the thousands of people who have joined the community and shared their data to advance our understanding of Parkinson’s.  We want to thank our Parkinson’s Research Community members for coming together and making this research possible.
We also want to thank our partners and friends at the <a href="https://www.michaeljfox.org/">Michael J. Fox Foundation</a>, <a href="http://www.thepi.org/">The Parkinson’s Institute</a>, <a href="http://www.parkinson.org/">National Parkinson’s Foundation</a>, <a href="http://my.clevelandclinic.org/default.aspx">Cleveland Clinic</a>, <a href="http://www.cureparkinsons.org.uk/">Cure Parkinson’s Trust</a>, <a href="http://www.pdasd.org/">Parkinson’s Association of San Diego</a>, <a href="http://www.nwpf.org/">Northwest Parkinson’s Foundation</a>, <a href="http://www.parkinsons.org.uk/">Parkinson’s UK</a>, <a href="http://www.caring.com/">Caring.com</a>, and <a href="http://www.parkinsons.ie/">Parkinson’s Association of Ireland</a>. These important institutions have offered tremendous support to this research as well as helping us spread the word and recruit interested individuals into this research community.
It has been quite a journey over the last four years — one that has taken us to<a href="https://blog.23andme.com/23andme-research/in-washington-talking-about-parkinsons-research/"> Washington DC to raise awareness for PD research</a>, to<a href="https://blog.23andme.com/news/inside-23andme/23andali/"> Muhammad Ali’s 70th birthday celebration to spread the word</a>, to<a href="https://blog.23andme.com/23andme-research/23andmes-parkinsons-community-is-almost-there/"> numerous PD patient conferences</a>, and led to some great press for the cause, including articles on<a href="https://www.npr.org/blogs/health/2012/08/20/158943097/search-for-parkinsons-genes-turns-to-online-social-networking"> NPR</a>,<a href="https://www.bloomberg.com/news/2012-05-11/google-s-brin-makes-strides-in-hunt-for-parkinson-s-cure-health.html"> Bloomberg</a>, BioCentrury TV and<a href="https://www.wired.com/magazine/2010/06/ff_sergeys_search/all/1"> Wired</a>.
We’re excited by the road ahead. We will continue to welcome people to participate in our research. While initially a donation from the Brin-Wojcicki Foundation was meant to cover the costs for just the first 10,000 people with Parkinson’s to enroll, the foundation’s continued generosity will allow us to continue to make it <a href="https://www.23andme.com/pd">free for anyone with Parkinson&#8217;s to join 23andMe</a> and be part of this research initiative.
We know that the possibilities for discovery continue to grow, and, with the continued partnership of our engaged Parkinson’s Research Community, we will move ever closer to a cure.

23andMe Reaches Parkinson’s Research Goal

<img loading="lazy" decoding="async" class="aligncenter wp-image-17551 size-full" title="AmyNickImage" src="http://35.88.189.111/wp-content/uploads/2013/02/AmyNickImage.jpg" alt="" width="462" height="362" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/AmyNickImage.jpg 462w, https://blogcms.23andme.com/wp-content/uploads/2013/02/AmyNickImage-300x235.jpg 300w" sizes="auto, (max-width: 462px) 100vw, 462px" />
Editor&#8217;s note:  PloS Genetics just published Amy Kiefer and Nick Eriksson&#8217;s work. Check out their paper here. 
Nearsightedness, where far-away objects look blurry, is a endemic affecting about 30-40 percent of adults in the United States alone. The increasing use of computers and cellphones are likely to make the problem worse, because they train our eyes to focus on short distances.
One <a id="internal-source-marker_0.8001693658154698" href="https://www.ncbi.nlm.nih.gov/pubmed/20008719" target="_blank" rel="noopener noreferrer">study</a> in the United States highlights how quickly nearsightedness has grown. The study found that from the early 1970’s to the early 2000s, the rate of nearsightedness in the population skyrocketed from 25 percent 42 percent.
While it&#8217;s clear genetics plays an important role in nearsightedness, until this month relatively little was known about which genes are involved. Two large studies, one by researchers at 23andMe, are shedding light some light on the subject.  Led by Amy Kiefer and Nick Eriksson,  23andMe researchers analyzed genetic data and survey responses from more than 45,000 23andMe customers who consented to research. The researchers identified 22 genetic associations for nearsightedness in people with European ancestry, and  confirmed about half of these associations using data from a separate group of customers.
Adding even more support for these findings, many of the associations identified by the 23andMe research were confirmed by another large, independent nearsightedness <a id="internal-source-marker_0.8001693658154698" href="https://www.ncbi.nlm.nih.gov/pubmed/23396134" target="_blank" rel="noopener noreferrer">study</a>.
One of the associations confirmed by this second study was near the gene LAMA2. LAMA2 encodes a protein important for the development of different eye structures.
Among the genetic variants found by 23andMe researchers that are associated with nearsightedness, is a variant that actually lowers the risk. About 24 percent of people with European ancestry have this variant. The other study also independently found that genetic variation near the LAMA2 gene was associated with nearsightedness.
You can find out more on our nearsightedness findings in our paper recently published in PLoS Genetics.

New genetic variants found to influence nearsightedness

<img loading="lazy" decoding="async" class="aligncenter wp-image-17528 size-full" title="Tetralogy_of_Fallot.svg" src="http://35.88.189.111/wp-content/uploads/2013/02/Tetralogy_of_Fallot.svg_-e1682537405785.png" alt="" width="477" height="323" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/Tetralogy_of_Fallot.svg_-e1682537405785.png 477w, https://blogcms.23andme.com/wp-content/uploads/2013/02/Tetralogy_of_Fallot.svg_-e1682537405785-300x203.png 300w" sizes="auto, (max-width: 477px) 100vw, 477px" />Image by Mariana Ruiz LadyofHats [Public domain], via Wikimedia Commons
By Bethann Hromatka, Ph.D.
New research suggests that a once-fatal <a href="https://en.wikipedia.org/wiki/Congenital_disorder">congenital</a> heart defect – sometimes called “blue baby syndrome” – is influenced by genetic factors that are broadly found in the general population.
Different heart malformations lead to poor oxygenation of the blood and a bluish discoloration of the skin, but the most common culprit (affecting three in 10,000 births) is a condition called tetralogy of Fallot (fah-LO), or TOF. Before the first heart surgery was pioneered for this condition in the mid 1940s, about 80 percent of affected children died before the age of ten.
<h6>Genetic Factors and non-genetic factors</h6>
Like most heart malformations that arise in the womb, it’s not possible to point to a single causative factor for TOF. A number of non-genetic factors increase risk – alcoholism and diabetes in the mother as well as poor nutrition and certain infections during pregnancy.
But there are also <a href="http://circgenetics.ahajournals.org/content/3/2/122.long">hints</a> that TOF is more common in some families, raising the possibility that genetics also plays a role.
<h6>A new study on TOF</h6>
The new <a href="http://hmg.oxfordjournals.org/content/early/2013/01/08/hmg.dds552.long">study</a> led by Dr. Heather Cordell from the Institute of Genetic Medicine in Newcastle provides insight into the genetic underpinnings of TOF. Dr. Cordell and colleagues carried out the first genome-wide association study (GWAS) on this condition in around 1,600 people of European ancestry and found two genetic variants associated with TOF. Their findings were published in the journal Human Molecular Genetics.
The first variant is located in a region of chromosome 12 (12q24) that has previously been associated with numerous complex conditions including coronary artery disease and autoimmune disease. The second variant is located in a gene called GPC5 that encodes a protein called glypican 5.
<h6>Other previously identified variants</h6>
Previous <a href="https://www.sciencedirect.com/science/article/pii/S1769721208001365">studies</a> have linked deletions near this gene with heart malformations including TOF.  A few other markers were also suggestively linked to TOF and it’s possible that future, larger studies might solidify their involvement.
This is the first study to suggest that common genetic factors in developing fetus play a role in TOF. Roughly 30 percent of people have at least one risky version of the SNPs discussed here, but each variant only increases risk slightly. Combine these genetic factors with environmental cues and the scale might tip towards TOF.
February is American Heart Month.

Bethann Hromatka

Genetic Associations with “Blue Babies”

<img loading="lazy" decoding="async" class="aligncenter wp-image-15595 size-full" title="DNA-bases" src="http://35.88.189.111/wp-content/uploads/2012/09/DNA-bases.png" alt="" width="607" height="457" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/09/DNA-bases.png 607w, https://blogcms.23andme.com/wp-content/uploads/2012/09/DNA-bases-300x226.png 300w" sizes="auto, (max-width: 607px) 100vw, 607px" />
Can 23andMe sample my dead relatives and why do you use spit to extract my DNA?
Inquiring minds want to know, or at least a lot of our customers do. 
There really are no dumb questions and if you have something to ask, we’ve probably heard it before. 23andMe has a lot of resources for folks trying to learn the basics; from<a href="https://www.23andme.com/user/claim/" target="_blank" rel="noopener noreferrer"> how do I register a kit</a> to<a href="https://www.23andme.com/gen101/snps/"> what’s a SNP</a>.
While we like to write about interesting genetic breakthroughs and compelling stories about people using 23andMe in unique ways on the blog, there’s something to be said about just covering the basics.
Like why we use spit and can’t sample your dead relatives.
Leave it to two science teachers to attack these pressing questions and many more.
<img loading="lazy" decoding="async" class="aligncenter wp-image-17508" title="Lab Out Load Logo" src="https://blog-api.23andme.com/wp-content/uploads/2013/02/Lab-Out-Load-Logo.jpg" alt="" width="204" height="198" />
Dale Basler and Brian Bartel, who when they’re not molding young minds also have a podcast and blog called<a href="http://laboutloud.com/"> Lab Out Loud</a>, spent some time with 23andMe scientist Emily Drabant talking about science and some of the<a href="http://laboutloud.com/2013/02/episode-90-looking-at-our-dna-with-23andme/"> basics of 23andMe</a>.
Dale and Brian asked about spit samples and dead relatives along with questions about how our Relative Finder determines how closely related someone is to you or the relative importance of your individual risks for a particular disease or how that risk compares to the average.
Check out the Lab Out Loud’s<a href="http://laboutloud.com/2013/02/episode-90-looking-at-our-dna-with-23andme/"> podcast</a>.

Some Basics About Using 23andMe

<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-13288" title="CancerInfographic" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/05/CancerInfographic-300x254.jpg" width="300" height="254" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/05/CancerInfographic-300x254.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/05/CancerInfographic-768x650.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/05/CancerInfographic.jpg 849w" sizes="auto, (max-width: 300px) 100vw, 300px" />
A new study by researchers at Boston’s<a href="http://www.brighamandwomens.org/"> Brigham and Women’s Hospital</a> draws attention to the value of online resources to document family medical history.
23andMe customers can record their family medication information in several ways, including through our Cancer Family History survey – men’s version and women’s version.
Having a simple record of the conditions your siblings, parents, aunts, uncles and grandparents have faced can help both you and your doctor know what to watch out for to keep you healthy. But often people don’t know or have failed to keep track of that valuable information, making it harder for doctors to assess risks for things like cancer or other chronic diseases.
Scientists at 23andMe<a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002973"> have shown</a> how using family history information together with genetic testing can offer even better risk prediction for disease.
The new study published in the<a href="http://rd.springer.com/article/10.1007%2Fs11606-013-2338-z"> Journal of General Internal Medicine</a> found that offering a simple online tool to track that history can help. About 10,000 patients were given an opportunity to fill out their family health histories and lifestyle information online while they waited for their physician visit.  When they completed the questionnaire, patients were given a report that summarized their risks for cancer, heart disease, diabetes and stroke. The physician could also choose to transfer the submitted information into the patients’ electronic medical records. About 6,000 other patients in the study simply saw their physician as usual.
The study found that the online tool offered patients a chance to document important family medical history and helped doctors document histories of disease that otherwise would have been missed.
About 1,000 patients ended up filling out the tool, or 10 percent of those who were given the opportunity. Overall, two percent of those who had a chance to fill out the online tool had their family history information incorporated into their medical record within 30 days compared to 0.6 percent of patients that were not given the tool. Of those who filled out the tool, 10 percent had family history information incorporated into their medical record compared to 0.8 percent of patients that would have been likely to fill out the tool had they been given the chance. This may indicate that among patients motivated to provide their family history information, the tool increases the probability that the information is captured in their medical record.
While the study’s findings are very preliminary, it does suggest the value of online tools for better documenting family medical history information. Still, only 10 percent of those given the chance actually filled out the online tool, citing lack of time as the main reason. This suggests that providing access to the online tool well before the appointment (rather than in the waiting room) would increase uptake.
In a press release concerning the study, Baer said “This type of risk assessment tool may be useful for collecting information on family history and lifestyle factors and may also help increase communication between physicians and patients about their risk.”

23andMe Medical History

<img loading="lazy" decoding="async" class="aligncenter wp-image-16833 size-full" title="23andMe-Uta-007" src="http://35.88.189.111/wp-content/uploads/2012/11/23andMe-Uta-007.jpg" alt="" width="508" height="726" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/11/23andMe-Uta-007.jpg 508w, https://blogcms.23andme.com/wp-content/uploads/2012/11/23andMe-Uta-007-210x300.jpg 210w" sizes="auto, (max-width: 508px) 100vw, 508px" />
 
We know from scientific research that, in general, people don’t freak out about the results they get from personal genetic testing. When the results show an increased risk for serious illness, how do they react?
It turns out that even then, the news doesn’t trigger serious anxiety. Quite the contrary, the results, according to a new <a href="https://peerj.com/articles/8" target="_blank" rel="noopener noreferrer">23andMe study published today</a> in the online academic journal <a href="https://PeerJ.com" target="_blank" rel="noopener noreferrer">PeerJ</a> found these test results prompted people to take positive steps, including talking to their doctors and discussing the results with family members who could also be at risk.
Lead author of the study and 23andMe’s Senior Medical Director, <a href="https://blog.23andme.com/news/23andmes-uta-francke-lauded-by-ashg/" target="_blank" rel="noopener noreferrer">Dr. Uta Francke </a>said the research addresses one of the most urgent questions in the field of genetics, “namely the impact of receiving unexpected information about high genetic risk for a life threatening disease.”
In this case, the study looked at how people reacted when they learned for the first time that they carried a mutation in either the BRCA1 or BRCA2 gene that put them at higher risk for breast and ovarian cancer.
Five to ten percent of breast cancers occur in women with a genetic predisposition for the disease, usually due to mutations in either the BRCA1 or BRCA2 gene. The mutations at the center of this study are responsible for a substantial number of hereditary breast and ovarian cancers among women with Ashkenazi Jewish ancestry.
The study found that those who acquired the potentially life-saving information not only took appropriate actions on their own behalf, but also notified relatives who might share that risk. In what the study described as a “cascade effect,” these relatives were tested because they were related to someone who had one of the high risk mutations.
A number of relatives who were subsequently tested discovered they too had one of the high risk mutations.
The findings are important given that a frequent criticism of direct-to-consumer testing is based on the assumption that it causes either serious emotional distress or triggers deleterious actions on the part of consumers.
Individuals who learned they had the mutation said they did not suffer serious emotional distress, and did not take inappropriate actions.
The study authors suggested that broader screening of Ashkenazi Jewish women for these three BRCA mutations should be considered.”

Customer response to direct-access BRCA genetic testing

<img loading="lazy" decoding="async" class="aligncenter wp-image-17459 size-full" title="richard-with-adoptive-parents-lo-res" src="http://35.88.189.111/wp-content/uploads/2013/02/richard-with-adoptive-parents-lo-res.jpg" alt="" width="768" height="960" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/richard-with-adoptive-parents-lo-res.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2013/02/richard-with-adoptive-parents-lo-res-240x300.jpg 240w, https://blogcms.23andme.com/wp-content/uploads/2013/02/richard-with-adoptive-parents-lo-res-704x880.jpg 704w" sizes="auto, (max-width: 768px) 100vw, 768px" />Richard Hill as a child with his adoptive parents, Harold and Thelma Hill. 
Richard Hill spent his career working in the sciences and in marketing, but hearing about his decades-long search for family you get the sense he would have made a great detective.
While shoe leather helped him unravel much of the mystery of his birth, it wasn’t until the availability of personal genetic testing, including testing through 23andMe, that Richard completed the picture of his biological family.
“My search had lurched ahead and stalled repeatedly over 31 years,” he says in a book he wrote about his quest <a href="http://www.dna-testing-adviser.com/finding-family-book.html">Finding Family: My Search for Roots and Secrets in My DNA</a>. 
The gap in Richard’s history became apparent when he was 18. That’s when his doctor looked through his medical file and let slip that Richard had been adopted. He was stunned.
“My heart skipped a beat,” Richard said in his book.
‘“Excuse me?” I asked. I must have misheard him. Or maybe he had me confused with someone else. I’m Richard Hill, son of Harold and Thelma Hill. Surely, he must have someone else’s file in his hands.’
<img loading="lazy" decoding="async" class="aligncenter wp-image-17460 size-full" title="Richard-Hill-01-HI-RES" src="http://35.88.189.111/wp-content/uploads/2013/02/Richard-Hill-01-HI-RES.jpg" alt="" width="1500" height="2100" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/Richard-Hill-01-HI-RES.jpg 1500w, https://blogcms.23andme.com/wp-content/uploads/2013/02/Richard-Hill-01-HI-RES-214x300.jpg 214w, https://blogcms.23andme.com/wp-content/uploads/2013/02/Richard-Hill-01-HI-RES-768x1075.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2013/02/Richard-Hill-01-HI-RES-731x1024.jpg 731w, https://blogcms.23andme.com/wp-content/uploads/2013/02/Richard-Hill-01-HI-RES-629x880.jpg 629w, https://blogcms.23andme.com/wp-content/uploads/2013/02/Richard-Hill-01-HI-RES-843x1180.jpg 843w" sizes="auto, (max-width: 1500px) 100vw, 1500px" />
Find Him
Thus begins Richard’s saga, which is part memoir, part detective story. It details his search for family, and how after decades of using paper records and tracking down whoever knew any tidbit of information that could help, Richard finally turned to DNA testing from 23andMe and other services. These tests helped him identify first his late biological father’s surname and later confirmed his exact place in his large biological family.
His search wasn’t fueled by a sense of abandonment. Richard knew his parents loved him, and he in turn loved them. Whenever someone asks him about finding his “real” parents, Richard corrects them, saying his real parents were the couple who adopted him. But the search and the answers he found on the way helped him fill in missing pieces of his history.
“I have a great appreciation of my adoptive parents and how they raised me,” he said. “And this certainly has made me think about the whole nature versus nurture thing and what I got from my biological parents versus what I got from my adoptive parents. But it’s also made me feel more complete.”
Or as he says in the book, “many of us (adoptees) will never know peace until we know all the pieces.”
Richard said that although he learned about being adopted at 18, his career and family all got in the way of seeking out more information about his birth parents. Digging into his adoption didn’t start in earnest until he was in his 30s after his father was bedridden by a stroke. He’d visit his dad often during that time and he would sit at his father’s bedside and talk. At one point, as if freeing a burden that had weighed on him all those years, his father said, ‘Well I guess you know you were adopted?”
His father went on to reveal the first bits of information Richard had ever heard about his biological mother. She was “a cute little Irish girl” and her name was “Jackie.” He added one more fascinating piece: that she had had another son. So Richard learned that somewhere out there he had a brother. His father suggested that Richard should find him.
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Ancestry Tools You Can Use
Not everyone’s family story is cloaked in mystery like Richard Hill’s. Most of us just want to learn a little more about our history and gain insight into the generations from which we descended.
23andMe’s Ancestry tools can help you explore what your genetics says about your ancestry. Some of the insights can only be had through genetics. When used with other information – whether it’s your family’s oral traditions, names of ancestors in a family Bible, or other paper records – your 23andMe results can become even more powerful.
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“Bingo”
When Richard started looking, he almost immediately faced daunting obstacles and dead ends. For instance, although he found the identity of his biological mother, he quickly learned that she’d died a little over a year after his birth. With a lot of work and luck, he was able to connect with her son, his half-brother. The two met for the first time in 1981.
But finding Richard’s biological father seemed impossible: He had no name – the one on his original birth certificate was the name of his birth mother’s ex-husband. In addition, his mother never told anyone who fathered her second child. The pregnancy itself was a secret and she had left town for the delivery. Still, none of that stopped Richard from searching. He did this by painstakingly piecing together his mother’s life at the time of his conception in 1945, and then contacting people who knew her or worked with her at the time and were still alive.
It took years. At one point he thought he’d found his birth father only to learn, after a paternity test, that he was wrong. That didn’t stop him either.
Finally, with the advent of early genetic tests that traced Y-DNA, the paternal line, Richard matched a distant cousin whose surname might also be that of his father. That provided a vital clue. He went back to some of the records he’d accumulated in his search. His mother had worked at a bar called Dann’s Tavern. Looking at old records he noticed that the name of the bar’s owner matched the surname he’d dug up.
“Bingo,” Richard thought.
Correcting a Mistake
Although the bar was long gone, and its owner dead and buried, Richard was able to find a niece of the man. He learned the owner was one of five brothers, and all of them were now deceased. So Richard started contacting sons of each man, asking if they would agree to a DNA test to determine if they were siblings. But unlike 23andMe’s test that now reads more than a million points in your genome, the only test available then looked at just 15 genetic markers to estimate family relationships. That test led him to identify the wrong man as his father and the wrong children as his siblings. It took a few more years, and a test by 23andMe and a test by FTDNA, to figure out that he’d made the mistake.
The two tools he used to correct the mistake were 23andMe’s Relative Finder and FTDNA’s Family Finder. The first test was on a man he thought was a cousin, but after getting the results back from 23andMe, it was clear that this man was actually his half brother.
“DNA testing helped me and it can help others,” Richard said.
His years of searching and his use of DNA testing has also made him a go-to source for others turning to genetic testing for more answers about their ancestry. He set up a website, <a href="http://www.dna-testing-adviser.com">www.dna-testing-adviser.com</a>, to help people make sense of the different tools out there.   And even with the ups and downs of his family search, he doesn’t regret a thing.
&#8220;I did not have to give up anybody in my adopted family. It&#8217;s not an either-or thing. You&#8217;re just adding on. You can&#8217;t have too much family.&#8221;

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