In the largest study of its kind researchers at the University of Cambridge have<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25247" src="https://blog-api.23andme.com/wp-content/uploads/2017/04/puberty-image-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/04/puberty-image-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/04/puberty-image.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" /> identified more than 380 genetic variants associated with the timing of puberty in men and women.


The <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3841.html">study</a> more than quadruples the number of variants identified in previous research that are known to be associated with the timing of puberty. The study also confirms a<a href="https://www.nature.com/articles/ncomms9842"> previous finding</a> from the same team that while boys and girls have obvious physical differences in their development many of the underlying biological processes are the same.


Led by scientists at <a href="http://www.cam.ac.uk/research/news/study-identifies-hundreds-of-genes-that-influence-timing-of-puberty-and-alter-risk-of-several">Cambridge’s Medical Research Council (MRC) Epidemiology Unit</a>, the study adds a new layer of data to our knowledge of the risks around certain adult diseases as well, because early puberty is associated with such things as an increased risk for breast and ovarian cancer in women and prostate cancer in men. In the case of breast cancer, these associations may be stronger for hormone-sensitive cancers.



“Our current study identifies direct causal links between earlier puberty timing itself and increased cancer risk,” said John Perry, the lead author of the study and a senior investigator scientist at MRC. “This link could possibly be explained by higher levels of sex hormones throughout life, but we need to do more work to understand the exact mechanisms involved. We aim to understand these disease links and thereby contribute to the prevention of diseases in later life.&#8221;


Puberty marks the transition from childhood into physical and sexual maturity, but its timing varies widely among individuals. That difference is influenced by genetics, nutrition, and environmental factors. Studying how they inter-relate could also help in the study of why early puberty is also associated with certain diseases and conditions later in life.
In the past, genetic studies were only able to identify a small fraction of what were believed to be hundreds of thousands of genetic variants involved in the timing of puberty. 
But, this study was able to identify a much larger portion of the genes that influence puberty by combining several very large datasets from multiple sources — including 23andMe, the<a href="http://www.internationalgenome.org/about"> 1000 Genomes Project</a>, the<a href="http://www.reprogen.org/"> ReproGen Consortium</a>, the<a href="http://www.ukbiobank.ac.uk/about-biobank-uk/"> UK Biobank</a> and the Icelandic company<a href="https://www.decode.com/"> DeCode</a>. 
This more than doubled the size of the group’s previous puberty study and quadrupled the number of variants found to be associated with the timing of puberty. Looking at genetic data from more than 329,345 women that were part of 40 different study cohorts, the researchers identified 389 genetic variants associated with the timing of puberty in women, known as the age of menarche. Of that total 23andMe contributed data from about 77,000  women who are customers and also consented to participate in research. 
The associations found in this portion of the study were then replicated using data contributed by deCode. 
In turn the researchers then looked at additional data from 23andMe,  and the UK Biobank regarding the onset of puberty in boys, determined by the year at which their voice broke. Data from about 56,000 men who are customers with 23andMe who also consented to research were used for this portion of the study. About 327 of the 389 genetic variants found to be associated with puberty in women were also found to have an impact on puberty in men.


In looking at those genetic variants that the researchers discovered, many were found in genes or gene regions involved in neural tissue. Interestingly, variants in some genes can have different effects on the timing of puberty depending on whether they were inherited from a participant’s mother or father.   
Variants in two genes in particular, MKRN3 and DLK1, had larger effects on puberty in girls when inherited paternally. In addition, in females, the variants discovered here tended to have a stronger impact on early puberty compared to late puberty. However, some of the same variants had a stronger impact on late puberty in males.
&#8220;One of the more remarkable findings concerns the role of certain types of genes called imprinted genes, which are only active in your body when inherited specifically from one parent but not the other,” said Ken Ong, also of the MRC Epidemiology Unit and a co-senior author of the paper. “We identified rare variants in two genes, which both lower the age of puberty when inherited from your father, but have no effect when inherited from your mother. This is intriguing as it suggests that mothers and fathers might benefit differently from puberty occurring at earlier or later ages in their children.&#8221;


You can find the paper at <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3841.html">Nature Genetics.</a>

23andMe Blog

23andMe Blog Team

New genetic variants found to influence puberty timing and cancer risk

Last year 23andMe focused  on updating plans for how best to <img loading="lazy" decoding="async" class="alignright size-medium wp-image-25240" src="https://blog-api.23andme.com/wp-content/uploads/2017/04/Karl-and-Olga.001-300x234.jpg" alt="Karl and Olga.001" width="300" height="234" />use the data that we had already collected. A key element of this was adding Karl Heilbron to the 23andMe research team. 
Karl is  a postdoctoral researcher focused exclusively on Parkinson’s disease. 
Most recently he presented a poster at the annual meeting of the American Society of Human Genetics, describing some of the preliminary findings of his work to find new phenotypes associated with Parkinson’s.

Some of the important Parkinson’s projects launched last year include a pilot study on the feasibility of incorporating de-identified medical records into the data we use for research. Analysis of the records is ongoing, and we expect to finish the pilot project by later this year. 
We have also updated the background Parkinson’s survey completed by all research participants. 
This new survey includes a new section focused on L-dopa induced dyskinesia , a side effect of the drug levodopa that can emerge over time in many individuals with Parkinson’s. We are interested in factors — genetic and non-genetic — that influence susceptibility to the side effect. Olga Sazonova, a research scientist at 23andMe, leads this effort. Thanks to all of the Community members who contributed data related to Parkinson’s and other research topics during the year.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/04/Top-Ten-Parkinsons-Activities.001-300x223.jpg" alt="" class="alignright size-medium wp-image-25294" width="300" height="223" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/04/Top-Ten-Parkinsons-Activities.001-300x223.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/04/Top-Ten-Parkinsons-Activities.001.jpg 602w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Our goals for for this year, are to analyze our existing data not just in-house but also in collaboration with other Parkinson’s researchers. For example, together with The Michael J. Fox Foundation, 23andMe recently solicited proposals for new collaborative Parkinson’s research projects. Our goal is to find proposal with the most potential to break new ground in what we know about Parkinson’s and with the most potential to meaningfully affect the lives of those living with Parkinson’s. We plan to announce the selected proposals over the summer.


Together with our collaborators the Research Team has also been working on a number of projects related to the collection of new types data. We plan to roll these out during the next few months. Topics to be covered include:<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/04/ASHG-Paper.001-1-300x225.jpg" alt="" class="alignright size-medium wp-image-25295" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/04/ASHG-Paper.001-1-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/04/ASHG-Paper.001-1-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/04/ASHG-Paper.001-1-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/04/ASHG-Paper.001-1.jpg 1024w" sizes="auto, (max-width: 300px) 100vw, 300px" />

<ul>
<li style="font-weight: 400;">Off-label prescriptions: This is a common medical practice in which a doctor prescribes a drug for an indication different from those that it has been approved for.</li>
<li style="font-weight: 400;">Impulse Control Disorders: Collecting more data on impulse control disorders, which are potentially serious complication, often seen in individuals with Parkinson’s. We are interested in understanding how common it is in the 23andMe Parkinson’s research community and how the risk of developing the condition is influenced by genetics and other factors including medications.</li>
<li style="font-weight: 400;">Cognition: The aim of the cognition project is to use a suite of online cognition tools, developed by 23andMe, to understand how Parkinson’s affects cognition and the changes associated with disease progression.</li>
<li style="font-weight: 400;">Microbiome: The microbiome project will involve the collection and analysis of samples from volunteers with and without Parkinson’s disease to investigate whether Parkinson’s or its subtypes are associated with changes in the makeup of the microorganisms living in participants’ mouths and intestines. This is a hot topic in Parkinson’s research and an area where the 23andMe’s research community can make a significant contribution.</li>
</ul>
Finally, we are hopeful that <a href="https://blog.23andme.com/23andme-research/parkinsons-awareness-month-2/">a collaborative project </a>we are planning with the Michael J. Fox Foundation will to among other things, expand the number of individuals with Parkinson’s in the 23andMe database.

Parkinson’s Research Community Update

April is Parkinson’s Awareness Month and this year it also marks the eighth anniversary of 23andMe’s <a href="https://www.23andme.com/pd/">Parkinson’s Research Community</a>, <a href="https://www.23andme.com/pd/"> 
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22635" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="Brain Logo" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" /></a>which introduced a game-changing model for science, one that leverages online tools and is powered by average, everyday people — people like you.


Parkinson’s Awareness Month also comes on the heels of an <a href="https://blog.23andme.com/news/good-news-health-reports/">FDA authorization</a> for 23andMe to offer several Genetic Health Risk Reports to customers, including one on genetic risk for Parkinson’s Disease. Genetics is one of many factors that influence a person’s chance for developing Parkinson’s disease. 23andMe’s new Parkinson’s Disease Genetic Health Risk Report looks at two of the most common variants associated with significantly higher risk for the disease LRRK2 G2019S, and GBA N370S. 


Putting this information into the hands of individuals is important for them personally, but it can do so much more. It can trigger the sort of engagement that powers important research as 23andMe has seen with the Parkinson’s Research Community, which now includes more than 11,000 people and is the world’s largest study cohort of genotyped individuals with Parkinson’s. 


The community has powered important research from the beginning, first helping to replicate known genetic associations for Parkinson’s and then leading researchers to find never before known associations. Beyond that work 23andMe has also joined in hugely important ongoing collaborations — with organizations like the <a href="https://www.michaeljfox.org/">Michael J. Fox Foundation</a> — which are helping lead to important insights and valuable data for future research. 
Right now 23andMe is working on a new research effort with The Michael J. Fox Foundation (MJFF), and we expect to announce more details about the program later this year. In the meantime, we strongly encourage people interested in supporting or participating in Parkinson’s research to learn more about the MJFF’s <a href="https://foxinsight.michaeljfox.org/">Fox Insight</a> program. 


For people with Parkinson’s or those who love them, the research done through the 23andMe Parkinson’s Research Community and its collaborators offers something else — a chance to make a difference. This is a true human desire. Not all of us have the resources or skills to do the science, but we all have the ability to offer what may be even more valuable, our interest and participation. As Thelma, the wife of one of our research participants, told us a few years ago, participating in research offered her a chance to make a difference.


“I have six grandchildren … and I don’t want (Parkinson’s) to befall them,” she said. “This is something I can do for them as well.”


Engaging people like Thelma is part of what 23andMe does well, but we offer something else too. 
Even individuals who do not have a specific condition, who are healthy and are not personally touched by some of the health conditions we study, can help by simply consenting to research. Having aggregated data from healthy individuals for which to compare is important for disease research. 
In addition, some individuals who remain healthy their whole lives, even though they have the variants that put them at a higher risk, could also offer researchers valuable information in their study of Parkinson’s and other neurodegenerative diseases. In fact, some scientists are starting to hypothesize that developing interventions before someone is symptomatic could be key to prevention or more effective treatment for some neurodegenerative diseases. 
One powerful way to study this hypothesis is to identify people with specific risk factors &#8211; like genetics &#8211; to focus on in future studies. 
The ability for people to participate in research and become engaged in this kind of work is game changing, said 23andMe co-founder and CEO Anne Wojcicki.

&#8220;What gets me up every day is the excitement of our potential for research and the opportunity to advance science and understanding of the underlying biology of conditions like Parkinson’s disease,&#8221; she said.  
<img loading="lazy" decoding="async" class="aligncenter size-large wp-image-22634" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Parkinsons-Research-Community-640x238.jpg" alt="Parkinson's Research Community" width="640" height="238" />

Parkinson’s Awareness Month

The U.S. Food and Drug Administration granted 23andMe authorization to offer ten genetic health risk <img loading="lazy" decoding="async" class="alignright size-medium wp-image-6586" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="23andMe_Logo_blog" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />reports including late-onset Alzheimer’s disease, Parkinson’s disease, celiac disease, and a condition associated with harmful blood clots.
For several years, 23andMe has worked on demonstrating that its reports are easy to understand and analytically valid in order to meet FDA requirements. The decision this week provides a clear pathway for submitting additional <a href="https://www.23andme.com/dna-health-ancestry/">genetic health risk reports</a> for the FDA’s consideration.
“The FDA has embraced innovation and has empowered people by authorizing direct access to this information,” said 23andMe co-founder and CEO Anne Wojcicki. “It is a significant step forward for 23andMe and for the adoption of personal genetics.”

<div style="float: right; text-align: justified; width: 350px; background-color: #eee; padding: 15px; margin-left: 10px;">Authorized Genetic Health Risk Reports:
• <a href="https://www.23andme.com/topics/health-predispositions/alpha-1-antitrypsin-deficiency">Alpha-1 Antitrypsin Deficiency (AATD)</a> 
AATD deficiency is a genetic condition that can lead to lung and liver disease. It is caused by decreased levels of the alpha-1 antitrypsin (AAT) enzyme.
• <a href="https://www.23andme.com/topics/health-predispositions/celiac-disease/">Celiac Disease</a> 
Celiac disease is a condition that is characterized by bloating, diarrhea, and abdominal pain after eating gluten.
• Early-Onset Primary Dystonia (DYT1/TOR1A-Related) 
Early-onset primary dystonia is a rare genetic condition characterized by involuntary muscle contractions and other uncontrolled movements. 
• Factor XI Deficiency 
Factor XI deficiency, also known as hemophilia type C, is a bleeding disorder caused by abnormally low levels of a protein called factor XI. When factor XI levels are too low, blood does not form clots properly to stop bleeding.
• <a href="https://www.23andme.com/topics/health-predispositions/g6pd-deficiency">G6PD Deficiency</a> 
G6PD deficiency is a common genetic condition characterized by episodes of anemia. People with this condition often have no symptoms unless triggered by certain factors. This condition is particularly common in people of African origin. 
•<a href="https://www.23andme.com/topics/carrier/gaucher-disease-type-1"> Gaucher Disease</a> 
Gaucher disease is a rare genetic disorder than can affect many organs. The most common form of this condition is Gaucher disease type 1, which often leads to an enlarged liver and spleen a well as bone abnormalities. A person must have two variants in the GBA gene in order to have Gaucher disease.
• <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">Hereditary Hemochromatosis</a> 
Hereditary hemochromatosis is a genetic condition in which the body absorbs too much iron. This leads to iron overload, which can cause liver disease.
• Hereditary Thrombophilia 
Hereditary thrombophilia is a predisposition to developing harmful blood clots. These harmful blood clots most commonly form in the legs and can travel to the lungs.
• <a href="https://www.23andme.com/topics/health-predispositions/late-onset-alzheimers/">Late-Onset Alzheimer’s Disease</a> 
Alzheimer’s disease is characterized by memory loss, cognitive decline and personality changes. This report identifies the status of a variant in the APOE gene associated with developing late-onset Alzheimer’s disease.
• <a href="https://www.23andme.com/topics/health-predispositions/parkinsons-disease/">Parkinson’s Disease</a> 
Parkinson’s disease is characterized by problems with movement, tremor and muscle stiffness. This report includes two genetic variants associated with a risk factor for Parkinson’s disease.
</div>
The decision on these reports came through the FDA’s de novo classification process. This is a regulatory pathway for first-of-its-kind medical devices that the FDA considers low to moderate risk, but have special controls to ensure safety, effectiveness and accuracy. 
For this authorization, 23andMe conducted extensive validation studies for accuracy and user comprehension that met FDA standards.
23andMe is now the only company authorized by the FDA to provide personal genetic health risk reports without a prescription. These reports provide individuals with information about genetic variants that could increase their personal risk for certain diseases. 
The company will release its first set of new genetic health risk reports including late-onset Alzheimer’s disease, Parkinson’s disease, hereditary thrombophilia, alpha-1 antitrypsin deficiency, and a new carrier status report for Gaucher’s disease in April, with additional reports to follow. New 23andMe Health + Ancestry customers in the U.S. will have access to these reports. Current 23andMe customers will be notified directly on their eligibility for receiving the new genetic health risk reports.
In addition to the authorization, the FDA indicated it will create something called a “Class II Exemption for substantially equivalent reports.” This opens a pathway for 23andMe to release additional genetic health risk reports that meet this “substantially equivalent” designation.
Prior to this most recent authorization, the FDA authorized  23andMe in February of 2015 to market the first direct-to-consumer genetic test for Bloom Syndrome under the de novo pathway. This in turn enabled the company to bring back more than 35 carrier status reports which identify inherited recessive variants. 
Genetic health risk reports, by contrast, convey personal health risk, necessitating a separate FDA review classification pathway. In its decision this week, the FDA specifically authorized 23andMe to market genetic health risk reports through the de novo classification pathway including: alpha-1 antitrypsin deficiency (AATD), celiac disease, G6PD deficiency, hereditary thrombophilia which is associated with blood clotting, early-onset primary dystonia, hereditary hemochromatosis, which is associated with iron overload in the blood, among other reports. 
<hr />
Answers to some of your questions:
<ul>
<li>
Does this mean 23andMe will bring back all the health reports they previously offered to customers? 
We will continue to work with the FDA to offer additional genetic health risk reports to our customers — we can’t speculate on specific new reports or the timing of those reports.</li>
<li>What is a &#8216;genetic health risk&#8217; report? 
A genetic health risk report offers customers the opportunity to see whether they have genetic variants that affect their chances of developing certain health conditions. Some variants can add to a person’s risk, some can lower their risk and others have no effect. Not everyone with a risk variant will develop the health condition and not having a genetic variant does not eliminate the risk of the health condition.</li>
<li>
What does it mean to be granted a de novo authorization? 
The Food and Drug Administration Modernization Act of 1997 (FDAMA) added the de novo classification option, which provides an alternate pathway to classify novel devices of low to moderate risk. The de novo process is used by the FDA to grant marketing authorization for devices that are new and unlike any other on the market. In addition de novo marketing authorization means that 23andMe met the FDA’s premarket requirements to demonstrate the following: accuracy, validity and user comprehension.</li>
<li>
When will you be getting clearance for the other health reports? 
We do not know, but we will continue to work in close collaboration with the FDA, on additional submissions for other genetic health risk reports.</li>
<li>Is this the first time that the FDA has made this type of authorization for a genetic health report? 
In February of 2015 we obtained the first ever FDA authorization for direct-to-consumer genetic testing covering our Autosomal Recessive Carrier Reports which inform people of genetic risks they may pass onto to their children.  This new FDA authorization is the first for any direct-to-consumer test which informs individuals about their own genetic health risks..   </li>
<li>
Will this speed up the process for authorization of other reports? 
23andMe has now established a regulatory pathway with FDA and designed and validated its products to meet those standards.</li>
</ul>

Good News About Health Reports

Each expectant parent brings their own unique mix of emotions to pregnancy, but all of them share the same hope of simply having a healthy and happy baby.<img loading="lazy" decoding="async" class="alignright wp-image-25215" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/9780374160784-200x300.jpeg" alt="" width="258" height="387" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/03/9780374160784-200x300.jpeg 200w, https://blogcms.23andme.com/wp-content/uploads/2017/03/9780374160784-587x880.jpeg 587w, https://blogcms.23andme.com/wp-content/uploads/2017/03/9780374160784.jpeg 667w" sizes="auto, (max-width: 258px) 100vw, 258px" />


Couples go through a slew of tests — from blood draws, to ultrasounds and sometimes amniocentesis. Increasingly, they are also turning to genetic testing. These tests include new noninvasive prenatal genetic sequencing to detect abnormalities in the fetus earlier than traditional tests, and even postpartum sequencing for newborns.
While the intent is to ensure the health of their child, these tests can sometimes complicate decisions for prospective parents, and ramp up their anxiety as they determine how best to handle this information.


In the thoughtful book, “<a href="http://us.macmillan.com/thegenemachine/bonnierochman/9780374160784/">The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids — and the Kids We Have</a>,” journalist Bonnie Rochman tackles some of the thorny issues that arise with these tests.
“(The book) is a road map that helps parents navigate the promise and peril of having children in an age of genetic tests and interventions,” Bonnie said recently.<img loading="lazy" decoding="async" class="alignright size-full wp-image-25216" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/e7455a_50325df2f84f4925b8b59cae29cd9b21mv2.jpeg" alt="" width="258" height="255" />


In some ways the questions that arise from newer genetic testing are no different from those that have arisen in the past, they just come up sooner and add — in both amount and detail — to the information that can be learned.


As Bonnie told the<a href="https://www.washingtonpost.com/news/parenting/wp/2017/02/28/parenting-in-the-age-of-genetic-testing-from-the-author-of-the-gene-machine/?tid=ss_tw&#038;utm_term=.43740dbfa724"> Washington Pos</a>t recently:
“It’s really important to know who you are as a person, what your mindset is, what you think about information. Do you find lots of information empowering, or does it overwhelm you?”
We spoke with Bonnie about these and other issues that arise and what parents might consider before embarking in some of these types of testing.
23andMe’s Blog: Do you think most prospective parents have these issues on their radar at all?


Bonnie: In dozens of interviews, so many parents told me that they jumped into genetic testing — no matter the specific test — without really understanding what they were getting into. They don’t have a clear picture of what they’re being tested for, what the results could mean, or what they’d do if a problem is detected. I think it’s human nature to err toward optimism, and the moms and dads I spoke with bear this out: they assume they’re going to get reassuring results. Of course, not everyone does. And when the unexpected happens, parents say they feel blindsided.


23andMe’s Blog: What suggestions do you have for parents considering using one of these tests?


Bonnie: Genetic counselors are really invaluable in helping parents decide whether testing in general — and which tests in particular — is right for them. As testing grows more complex and comprehensive, it can help to have someone in the know to walk moms and dads through the pros and cons of various tests. Doctors often don’t have the time to do this, but this sort of hand-holding is genetic counselors&#8217; area of expertise.


23andMe’s Blog: For some time, we have had the ability to use ultrasound and obtain a karyotype (a picture of the chromosomes) from procedures like amniocentesis, and CVS to tell us about potential issues for our unborn children. Why are the current genetic tests thought of differently than those prenatal tests?


Bonnie: 
Genetic tests are increasingly relying upon sequencing technology, which allows them to dive deeper into our genome, our genetic code. Some of these tests can help detect Down syndrome in the first trimester, much sooner than was previously possible. So that’s a really significant change. And other deep-dive tests, like chromosomal microarray, can uncover tiny deletions or duplications of DNA that are much smaller than something like the entire extra copy of a chromosome that characterizes Down syndrome. It’s not uncommon for doctors to be uncertain about the significance of these small genetic errors. Do they matter? Are they associated with one genetic condition or another? Our ability to deploy all this amazing genetic and genomic technology has outpaced our understanding about what much of the data means. In many cases, even the experts don’t know. This can create a lot of confusion for parents. 


23andMe’s Blog: You mention the gene editing technique known as CRISPR in several places in the book. This highlights both the speed of change in technology, and some pretty basic dilemmas in using this technology. Where do you think all of this is headed?


Bonnie: First off, it’s important to emphasize the polygenic nature of DNA and its influence on traits, which means that in so many situations, it’s a confluence of genes plus environment that determine how traits are expressed. It’s not as if there’s a Baby Einstein gene or a single gene that codes for a killer jumpshot on the basketball court. So we can’t test to determine which embryo is destined to be the next Neil deGrasse Tyson or Steph Curry. As for gene editing, researchers are focused on using CRISPR’s gene modification tools to address disease. While that’s a valid — and valiant — effort, it’s inevitable that some of these technological advances may be co-opted for non-disease-related reasons. For example, there is ongoing work to find a CRISPR-related gene modification to address Duchenne muscular dystrophy (DMD), which affects mostly boys, weakening muscles and leading to death often by the mid-20s. Say we figure out how to “fix” or treat the gene defect that causes DMD. It doesn’t take a huge leap of imagination to envision a world in which some “mad scientists” would say: Hey, we know how to jumpstart muscle growth. Can we do this in athletes?

The Gene Machine

The best things take time, or at least that’s one way of looking at why Jonathan Hay waited so long to meet his biological mother in person.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25211" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/jon-hay-quote-300x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/03/jon-hay-quote-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/03/jon-hay-quote-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2017/03/jon-hay-quote-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/03/jon-hay-quote-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/03/jon-hay-quote-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2017/03/jon-hay-quote-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2017/03/jon-hay-quote-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2017/03/jon-hay-quote-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2017/03/jon-hay-quote.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />
“I’ve been avoiding it for two years out of fear,” said Jonathan, a music producer and publicist.
But the fear evaporated when the two finally met in February.
“It was a life-changing experience that instantly helped unwrap all the emotional bondage and deep rejection that a lot of adopted people suffer with,” he said. “Looking in her eyes, I could see the decades of pain, loss and love that penetrated to the soul. I was finally home.”
We first<a href="https://blog.23andme.com/ancestry/how-i-met-my-father/"> wrote about Jonathan</a> when he found his biological father two years ago.
Adopted in Florida, Jonathan could identify his birth father, Ronnie Bradley, and a half-brother, Ryan, after connecting with a close cousin using 23andMe.
Jonathan also got some help from an adoption search expert in the state. Together, they were also able to identify his mom and fill in some of the blanks around his birth and adoption.
His dad told him that Jonathan was a new Navy enlistee living in San Diego when he was born. He didn’t even know his former girlfriend had been pregnant and only learned about Jonathan’s birth after getting the legal papers to give up the baby for adoption. 
Jonathan’s mom, Pam Nicely, lived in Florida and was still a teen struggling for her future.
After piecing together the story, Jonathan—ever the publicist—decided to create a reality show about meeting his birth parents for the first time. He began to pitch the idea for what, at first, he called “The Haymaker.” Everything was in place, but he couldn’t escape the fear of an in-person contact. 
That changed in November of last year when he met his brother Ryan for the first time.
“He’s actually the first person I met from my biological family,” Jonathan said.
His brother was able to give Jonathan even more background on the family, and most importantly, Ryan knew how Jonathan could contact his mother.
When Jonathan finally called his mom and planned his trip to see her in Ashtabula, Ohio, he didn’t bring any cameras.
“Everyone wanted to film it, but I just decided to keep it private,” he said.
Spending time with his biological mother, getting to know her, ask her questions helped relieve some of the fear Jonathan had.
“Meeting her really gave me the strength to follow through with the TV show,” he said. “I was kind of at a roadblock in my life emotionally, but that was a breakthrough.”
Now he is gearing up to begin filming in Florida in April for an in-person meeting with his dad. The show is now tentatively titled “Daddy Issues” and features Jonathan’s daughters, Iliana Eve, 14, and Hannah Lynn, 16. Both girls also have budding music careers that Jonathan is trying to support. 
As for the show, Jonathan said he’s working with Angie Fenton, a well-known Louisville television correspondent. Part of the attraction of working with Fenton was that she underwent this process herself. Fenton documented her journey meeting her biological father in an Oxygen network series called “Finding My Father.&#8221;
“We&#8217;ve been talking to A. Smith Productions as well,” said Jonathan. “(There are) a lot of options for the show. We need to get the pilot done first, which is what we are filming in April in Florida.”
Whatever happens with the show, Jonathan said using 23andMe to connect to his biological family sent him on a pilgrimage that is helping him unpack the complicated emotional baggage he’s been carrying through his life.
“Thank you so much for creating your product,” he said.

Coming Home

It’s not quite waffles and paella, but it appears that Neanderthals<img loading="lazy" decoding="async" class="wp-image-421 size-full alignright" src="http://35.88.189.111/wp-content/uploads/2008/07/neanderthaler2.jpg" alt="" width="400" height="266" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/07/neanderthaler2.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2008/07/neanderthaler2-300x200.jpg 300w" sizes="auto, (max-width: 400px) 100vw, 400px" /> were omnivores who adapted to eating whatever was available to them in the regions where they lived.
DNA samples extracted from ancient plaque on teeth found in a cave in Belgium and from those found at a site in Northern Spain indicate that Neanderthals had distinct regional cuisines.
In the area that is now Belgium, Neanderthals ate a lot of meat—woolly rhinos and wild sheep—while those in Spain were vegetarians, living off pine nuts, mushrooms, tree bark, and forest moss.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">
<h2>Find Your Inner Neanderthal<img loading="lazy" decoding="async" class="aligncenter wp-image-24217 size-full" src="http://35.88.189.111/wp-content/uploads/2016/08/Neanderthal-Report-Home.png" alt="" width="2534" height="1396" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home.png 2534w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-300x165.png 300w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-768x423.png 768w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-1024x564.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-880x485.png 880w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-1180x650.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-271x149.png 271w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-372x204.png 372w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-574x315.png 574w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Neanderthal-Report-Home-980x539.png 980w" sizes="auto, (max-width: 2534px) 100vw, 2534px" /></h2>
23andMe reports to customers the number of Neanderthal variants they carry, how that compares with other customers, and traits those variants are associated with, such as back hair and height.
</div>
<h2>Neanderthal Microbiome</h2>
Even more interesting than what was on the menu is the additional information scientists gleaned from the first microbiome sequence of an extinct species. Our microbiome is the collection of bacteria and microbes on and in our bodies that we depend on for survival. They can also tell us a lot about health, and researchers have, over the last decade, begun using DNA extracted from calcified plaque on teeth to help piece together the lives of our ancient ancestors. 
The most recent work is the first such successful effort focused on Neanderthals.
<h2>Medicinal Practices</h2>
In addition to learning about what our ancient cousins ate, the researchers also found signs of possible primitive medicinal practices. In one case, from an individual in Spain who appeared to have had a dental abscess and some sort of gastrointestinal parasite, the researchers found traces of the bark from a poplar tree, which has salicylic acid, a natural painkiller used in aspirin, as well as material that included Penicillium mold.
According to researchers, the data offer genetic evidence regarding not only diet but also Neanderthal behavior and the diseases they struggled with. 
The study also offered some exciting twists to speculation around the nature of Neanderthal and human interactions.
<h2>Neanderthal and Modern Human Interactions</h2>
Neanderthals went extinct about 40,000 years ago in Europe, but traces remain in the DNA of people with non-African ancestry. That intermixing likely offered humans an evolutionary advantage to survive as they migrated outside of Africa. But why modern humans thrived, and Neanderthals disappeared from the earth is still not fully understood.
The biggest spit-take of this most recent study had to do with … spit. One researcher said that genetic evidence of an oral microbe in the mouths of these Neanderthals — also found in the mouths of modern humans — suggested that this bacteria was transmitted between Neanderthals and humans, implying “that these interactions were much friendlier and much more intimate than anybody …  imagined.”
“If you’re swapping spit between species, there’s kissing going on, or at least food sharing,” co-author Laura Weyrich told the journal<a href="https://www.nature.com/news/neanderthal-tooth-plaque-hints-at-meals-and-kisses-1.21593"> Nature</a>.
While Neanderthals and humans may have kissed cousins, others were less willing to<a href="https://www.theatlantic.com/science/archive/2017/03/neanderthal-dental-plaque-shows-what-a-paleo-diet-really-looks-like/518949/"> draw those conclusions</a>. That doesn’t mean that the science wasn’t solid&#8211;just that it didn’t indicate how the oral microbe went from modern humans to Neanderthals. 
Much like the study of ancient human and Neanderthal DNA, the study of ancient microbiomes has added to what we know about human history. Historical changes such as the rise of agriculture and the industrialization age can be plotted in changes in the human microbiome. The information we glean from this research could also help us understand how changes in the microbiome influence human health.

The Neanderthal Cookbook

In the largest genetic <a href="https://www.nature.com/articles/ncomms14694" target="_blank" rel="noopener noreferrer">study</a> of male patterned baldness to date, scientists at the University of Bonn working in collaboration with 23andMe and other <img loading="lazy" decoding="async" class="alignright size-medium wp-image-7918" src="https://blog-api.23andme.com/wp-content/uploads/2010/11/baldness-300x213.jpg" alt="baldness" width="300" height="213" />institutions, have found more than 60 genetic variants associated with <a href="https://www.23andme.com/topics/traits/bald-spot/">balding</a>.
The findings offer not just new insights into the biology of the condition, but potentially greater understanding of other health conditions that are associated with it.
Despite being widely studied and very common  — particularly among men of European ancestry — male pattern baldness is poorly understood. Scientists know losing one’s hair is highly heritable and dependent on testosterone, but little else is known about the complex underlying biology.
Because losing one’s hair early in life is also associated with serious health conditions — prostate cancer and Parkinson’s disease, for instance — understanding how and why men go bald, could help our understanding of a wide range of conditions.


“These novel insights into the genetic basis of (male pattern baldness) and its association with other traits may help to elucidate the evolutionary forces responsible for the relatively high prevalence of (it) in the European population,” the study authors said.
For this paper, the team of researchers lead by Stefanie Heilmann-Heimbach of the University of Bonn, looked at data from more than 22,000 people, including about 17,000 23andMe customers who consented to participate in research. The remainder of the data used for this study came from several smaller cohorts in Europe and Australia.
Using these data for their large-scale meta-analysis, the researchers found 63 genetic variants associated with male pattern baldness, 22 of which are novel.
The variants were found in or near genes that play a role in hormonal status, melatonin signaling, fat cell differentiation, and the growth phases of hair. Six of the genetic variants identified are on the X-chromosome and may account for some of the resemblance of hair loss between men and their grandfathers on their maternal side, according to the researchers. The remaining variants found in this study are on the autosomes, the non-sex chromosomes.
Taken together these findings highlight genes that are likely involved in the biological process that leads to balding and as such the researchers believe that they could be promising targets for drugs to treat the condition.
Beyond that, the research also illustrates that male pattern balding shares similar biology with other traits and conditions.
“This may have strong implications for the evaluation of male pattern baldness as an early prognostic marker for different phenotypes,” the researchers said.


The authors also believe the findings could lead to the “repurposing” of existing drugs for male pattern baldness. They point out that two drugs that were originally developed to treat hypertension and prostate hyperplasia — minoxidil and finasteride — resulted in stopping hair loss and regrowing hair as a side effect to the treatments.


The study appears in the journal <a href="https://www.nature.com/articles/ncomms14694" target="_blank" rel="noopener noreferrer">Nature Communications</a>.

The role of genetics in male-pattern baldness

Maria Biskie spent her life searching.
Born in the Philippines in 1973, she never knew her father. In her lowest moments, she’d longed to have him by her side. That day came earlier this year, after testing with 23andMe. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/Maria-Dad-238x300.jpg" alt="" class="alignright size-medium wp-image-25306" width="238" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/03/Maria-Dad-238x300.jpg 238w, https://blogcms.23andme.com/wp-content/uploads/2017/03/Maria-Dad.jpg 642w" sizes="auto, (max-width: 238px) 100vw, 238px" />


“There were a lot of times in my life which were very rough and very hard for me,” Maria told the Hays Daily News in Hays Kansas. “I could only wish he was there.” 

Maria and her biological father, Bill Tittle met in person for the first time at in early March. For Tittle, who never married and never knew he had a child, meeting Maria was a little overwhelming.

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“I’m not an emotional guy, but it gets to me,” he said while wiping away tears.


Tittle was in the Navy and stationed in the Philippines in the early 1970s when he began dating Maria’s mother. This was during the waning days of the Vietnam War, and when he left on a deployment without much notice he didn&#8217;t know his  girlfriend was pregnant. When he returned, she was gone.
Maria’s mom had moved back to her hometown a few hours away to have her baby. Tittle tried but was unable to find her, he told the paper
Tittle is now retired and lives in Venice California. He never married. Learning he has not only a daughter, but also four grandchildren, brings him great joy.
“I have no other kids, and it was good news to me. I tell people I got the email a young man fears and an old man looks forward to,” he said.


For Maria, finding her father has brought her peace.


“I found everything I’ve been looking for in my life,” she said.


Check out her story here.

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