By looking at data on when boys’ voices first broke as a way to time the onset of puberty, researchers at <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23127" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/Boys-Choir-300x300.jpeg" alt="Boys Choir" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Boys-Choir-300x300.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Boys-Choir-150x150.jpeg 150w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Boys-Choir-271x271.jpeg 271w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Boys-Choir-372x372.jpeg 372w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Boys-Choir.jpeg 445w" sizes="auto, (max-width: 300px) 100vw, 300px" />the University of Cambridge have completed a first-of-its-kind <a href="https://www.nature.com/ncomms/2015/151109/ncomms9842/full/ncomms9842.html" target="_blank" rel="noopener noreferrer">genetic study</a> and found that for both boys and girls puberty is influenced by many of the same genetic variants.
“Our study shows that although there are obvious physical differences in pubertal development between boys and girls, many of the underlying biological processes governing it are the same,” said study lead author <a href="http://www.mrc-epid.cam.ac.uk/people/john-perry/" target="_blank" rel="noopener noreferrer">Dr. John Perry,  </a> of the <a href="http://www.mrc-epid.cam.ac.uk/" target="_blank" rel="noopener noreferrer">Medical Research Council (MRC) Epidemiology Unit</a> at the University of Cambridge.


The <a href="https://www.nature.com/ncomms/2015/151109/ncomms9842/full/ncomms9842.html" target="_blank" rel="noopener noreferrer">study</a>, published in Nature Communications, is the biggest large-scale genetic study of puberty to look at both young men and women together. Part of what is unique about this study is the novel way researchers determined the age of puberty in young men.
Using data from 55,000 male 23andMe customers who consented to research, the authors of the study used the participants recollection of their age when their voice first broke as a marker for puberty and found genetic variants associated with earlier onset of puberty in boys.


“(The study) also shows that the age when men’s voices break, even when recalled decades after the event, is an informative measure of puberty timing” co-author <a href="http://www.mrc-epid.cam.ac.uk/people/felix-day/" target="_blank" rel="noopener noreferrer">Dr. Felix Day</a>, who is also at the MRC Epidemiology Unit at the University of Cambridge.


Up until now most of scientists understanding of the genetics of puberty came from studies that look at either rare disorders in young men, or studies that focused on young women alone. This novel way of looking at puberty in young men – asking men to recall the age they were at when their voices changed – allowed researchers to compare the genetic influence on the timing of puberty in both sexes.
What they found was surprising, more than a dozen genetic variants that influence the timing of puberty in women, also influence the timing of puberty in men.
In addition, the researchers also found that some of those genetic variants are correlated with conditions developed later in life such Type II diabetes, cardiovascular disease, obesity and fasting insulin levels.


The researchers picked voice breaking to gauge the onset of male puberty because it is a distinct development milestone in young men that happens when their larynx lengthens due to exposure to more male hormone.
After they looked at the genetic associations among men for onset of puberty, the researchers then compared that data to information from more than 180,000 women who were part of a consortium study, called <a href="http://www.reprogen.org/" target="_blank" rel="noopener noreferrer">ReproGen</a>, as well as from the <a href="http://www.1000genomes.org/home" target="_blank" rel="noopener noreferrer">1000 Genomes Project,</a> and data on puberty from more than 76,000 women who are also 23andMe customers and consented to research.
What they found was that of the 14 genetic variants found to be associated with puberty, five had never before been associated with puberty.
The nine other variants had been previously identified as associated with the timing of puberty in young women, but this was the first time any researchers found an association for the timing of puberty in young men.
This study is the first to quantify the strongly shared genetic basis for puberty timing between the sexes, and, according to the researchers, the results are consistent with previous studies that looked at sex-specific rare disorders of puberty.


The study also offers additional insight into the biological pathways and process of early puberty, by looking at the function of the genes and gene regions where these variants are located. For example, two of the newly found variants are located in or near the genes RORB and RXRA, which regulate cell differentiation, cell development, circadian rhythm and metabolism.
“Other studies have shown that earlier age at puberty in girls predicts higher risks for the same diseases. We now show that the same is true in men,&#8221; said <a href="http://www.mrc-epid.cam.ac.uk/people/ken-ong/" target="_blank" rel="noopener noreferrer">Dr. Ken Ong</a>, of the MRC Epidemiology Unit and a co-author of the study. &#8220;The next steps will be to understand how to prevent early puberty in boys and girls, possibly by reducing childhood overweight and obesity, or by other means.”


But he added that while many of those correlations with earlier puberty were for adverse conditions, earlier puberty was correlated with at least one favorable condition – higher bone mineral density.

23andMe Blog

23andMe Blog Team

Genetics found to influence puberty timing in girls and boys

<div id="attachment_22956" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22956" class="wp-image-22956 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/IMG_2762-300x203.jpg" alt="IMG_2762" width="300" height="203" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762-300x203.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762-768x518.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762-1024x691.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762-880x594.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762-1180x797.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_2762.jpg 1988w" sizes="auto, (max-width: 300px) 100vw, 300px" />Barbara Weir, right, with her daughter Casey.</div>
Not everyone who tries 23andMe has the same sort of reaction to his or her results as Barbara Weir.


“It’s mind boggling,” said the 87 year-old who lives in San Diego. “Next to marrying my husband and having my children it’s the most exciting thing in my life. It explains so much about me – who and what I am.”
With the help of her daughter, Casey Spaccarelli, a doctor who lives in Chicago, Barbara not only found out that she’d been adopted – something she’d never known – but she also connected with and then met her half brother in person.
“One of the big things for me is that it explains so much,” she said. “Looking back I was nothing like my family. We had different aptitudes and interests. I remember my sister once telling me ‘we’re not alike at all.’ I wanted to be like her and my family, but I just wasn’t.”
<div id="attachment_22955" style="width: 269px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22955" class="wp-image-22955 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-259x300.jpg" alt="IMG_4728-1" width="259" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-259x300.jpg 259w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-883x1024.jpg 883w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-768x891.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-758x880.jpg 758w, https://blogcms.23andme.com/wp-content/uploads/2015/10/IMG_4728-1-1017x1180.jpg 1017w" sizes="auto, (max-width: 259px) 100vw, 259px" />Barbara and her brother Marvin soon after meeting for the first time.</div>
The revelation that she’d been adopted and that she had biological family, including a half brother, who had lived in the Boston area, didn’t happen all at once. It started with a lot less drama, with Casey deciding to create a family tree and look at her ancestry. She tested first with another company.
“I did it for fun,” she said.
But very quickly she discovered a lot about herself that didn’t match what she had always been told. For one, she has about a quarter Ashkenazi Jewish ancestry.
“No one in the family knew of any Jewish heritage, only German,” Casey said.
Eventually Barbara tested and it turned out that she has about 50 percent Ashkenazi Jewish ancestry. Casey tested with 23andMe thinking that perhaps the result was a mistake. It wasn’t. So she had her mother and her mother’s sister, Nancy, test on 23andMe. Her mother’s results confirmed the Ashkenazi ancestry, but her mother and Nancy didn’t have any overlapping DNA. They weren’t biologically related, according to the test.


“So I told my mom, ‘I think you may have been adopted?’” Casey said. “And she just said, ‘Oh I don’t know, maybe,’ and left it at that.”


But Casey wanted to figure this out. Fortunately she found a close relative connection in her 23andMe results with a name she didn’t recognize. So Casey contacted him. His name is Steve and she told him a little bit about herself and asked if he had any family in the Boston area, where Barbara had been born in the late 1920s.


“He said ‘my whole family is from Boston,’” Casey said.


He was open and helpful. Steve also had a lot of family history that he was willing to share with Casey, names and dates. That all became very important for Casey, who, by triangulating information, figured out that Steve’s grandfather Karl was also likely to be her grandfather, and Barbara’s father. Fortunately Steve’s uncle Marvin was still alive and they decided to talk to him.


“That got the ball rolling,” Casey said.


She knew they were close to solving this mystery. After looking at a few high school photos of Marvin and his sisters, Casey was pretty sure she’d found her mother’s biological family. A few weeks later Marvin, who grew up in Boston but now lived very close to Barbara in California, tested with 23andMe.
Bingo.
He turned out to be Barbara’s half brother.
The two arranged to finally meet. In photos they look remarkably similar with the same slim build and smiles.
“I’d never seen anyone who looked like me before,” said Barbara, surprised to be able to see family resemblances in her new-found brother and in photos of her sister.
Marvin’s father, Karl, had been a successful business owner in Boston, who had emigrated from Russia. He had a big family – Marvin, who is a year younger than Barbara, was the last of the family’s six children.
Casey still doesn’t know the circumstances of Barbara’s conception, only that she and Marvin have the same biological father, but different mothers. Barbara’s parents lived in Boston at the time she was adopted but later moved to Nashville where she grew up.


“So my mother found out she was adopted at 87 years of age,” Casey said. “It had been this huge family secret only known to her adoptive mother and the secret had died with her, until now. Until 23andMe.”


Even learning this so late in life was hugely important for Barbara. Things she wasn’t sure about in the past suddenly made sense.
“It’s amazing to learn this all at my age,” said Barbara. “I finally found out who I am.”

Who I Am

To teach his students a powerful lesson in genetics, Bryant McAllister, an associate professor of biology at the University of Iowa, poses a simple question.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23169" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/BFM_computer-225x300.jpg" alt="BFM_computer" width="225" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/BFM_computer-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2015/10/BFM_computer-768x1024.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/BFM_computer-660x880.jpg 660w, https://blogcms.23andme.com/wp-content/uploads/2015/10/BFM_computer-885x1180.jpg 885w, https://blogcms.23andme.com/wp-content/uploads/2015/10/BFM_computer.jpg 1536w" sizes="auto, (max-width: 225px) 100vw, 225px" />


“Who are you?” Dr. McAllister asks.


The answer, and the genetic tools to explore it, offer an opportunity for students to learn, not just about themselves and biology, but also a little about the scientific revolution of personal genomics.


“My idea was to utilize personal genomics to provide an opportunity for students to investigate their relationships with others through DNA analysis,” Dr. McAllister said. “I thought it would provide an unique and engaging perspective for them.”


After researching a number of personal genome testing options, he concluded that 23andMe was the best choice for his course:
“Who are you? Revelations from the Personal Genome,” which he first taught in the fall of 2014 to a small class of first-year students.
The course was open to all &#8212; without any science prerequisites or restrictions on students’ majors — and designed to be relevant for all types of students.
The 23andMe DNA kits are free to the students (costs are covered by a university budget for first-year seminars), but Dr. McAlister makes it very clear to his class that participation in genotyping is completely optional.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23170" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/ed-logo-245x300.jpg" alt="ed logo" width="245" height="300" />


“We spend the first class discussing the possible surprises that may come from doing a genetic test &#8212; such as a half sibling students never knew about or discovering unexpected ancestry composition. I feel it is my responsibility to clearly inform the students,” Dr. McAllister insisted.


He encourages students to speak with their families before deciding if they will get genotyped, and he explains the controls students have when viewing their data, such as the ability to turn off relative matching. Students have a week to decide if they would like to participate in 23andMe genotyping.
The 15-week class is set up so saliva samples are shipped to 23andMe after the second class meeting. This allows enough time for sample processing so class work with the 23andMe results starts no later than mid-way through the course.


Once the 23andMe results are returned, students trace the history of mitochondrial DNA and the Y chromosome and identify their own placement on a haplogroup tree. They study the significance of ancient genetic variants associated with Neanderthal admixture, and relate it to their 23andMe Neanderthal percentage ancestry reports.
In another activity, students consider the comparisons of SNP data against reference populations in order to determine ancestry using M&amp;M  candy.
Learn more about Dr. McAllister’s activity, <a href="https://education.23andme.org/l/where-did-my-mms-come-from/" target="_blank" rel="noopener noreferrer">“Where do my M&amp;Ms come from?”</a>
In addition to exploring their  ancestry using 23andMe results, students also study the genotype -phenotype association for traits, such as lactose intolerance and the ability to taste bitter substances. Students also discuss genome-wide association studies focused on habitual coffee consumption, a particularly relevant topic for new undergraduates adjusting to college life.
Now in its second year, this freshman seminar is receiving a lot of interest. The class filled up very quickly, and students are more informed about what they will be participating in.


This growing student awareness of direct-to-consumer genetic testing is aligned with Dr. McAllister’s other ideas on how to further student engagement and understanding of personal genomics at the University of Iowa. For example, he would like to build a community of biology and life science majors who apply their science background to learn the applications of and technology behind personal genomics.


“I think these students could be a very helpful resource for people in our local community, to help people without an academic background in biology navigate their personal genotyping results and understand their implications,” he said.


Dr. McAllister also is interested in determining whether or not the use of 23andMe, along with specific learning activities, could significantly motivate students in an introductory biology course and increase their likelihood of success.


“In my opinion, we are just scratching the surface as to how personal genotyping can be used as an effective educational tool,” he said.


Editor&#8217;s note: This is the first in a series of &#8220;Educator Spotlight&#8221; posts highlighting how educators are incorporating genetics into lesson plans. To find out more check out <a href="https://education.23andme.org/" target="_blank" rel="noopener noreferrer">23andMe For Educators</a>.

A Fresh Take on Genetics for Freshmen

Selma Spieler wished she knew more about her father.
&nbsp;
<div id="attachment_22922" style="width: 235px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22922" class="size-medium wp-image-22922" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/Avram-and-family-225x300.jpg" alt="Selma's father Abraham and her mother Gisha &quot;Gussie&quot; and her sister Aida." width="225" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/09/Avram-and-family-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Avram-and-family.jpg 480w" sizes="auto, (max-width: 225px) 100vw, 225px" />Selma&#8217;s father Abraham and her mother Gisha &#8220;Gussie&#8221; and her sister Aida.</div>
She knew he came from Russia, was generous – regularly bringing food to neighbors and sending money to a cousin in Israel who was studying to be a doctor. And she knew her father worked hard, toiling at night in a bagel factory in Brooklyn after he immigrated to New York in the 1920s.
But there was a lot she didn’t know about him.
Before she could learn more, her father, Abraham “Avram” Leib Greenberg, died. Selma was 14. It was 1946 and at that moment it sunk in that she’d never be able to ask him about his past, about the seven siblings he left behind in Russia and Poland, or how his family was able to survive pogroms, the violence of World War I and the Russian Revolution.
Selma thought she lost all that family history with her father, a man born in the 1800s, who survived world-shattering changes that swept through Europe before he came to America. She was sure that the history of his life vanished with him. She thought that all the family he left behind was gone too, swept away in the violence that came after her father immigrated. Now in her 80s, she’d long ago given up on finding out anything more about her father and his family.
“My mother just assumed that they had all died in the Holocaust,” her daughter Risa Rubin said.


It’s an experience many Jews with family roots in Eastern Europe can relate to – large parts of their family history erased by the Holocaust and the upheaval of the Second World War.
But more than seventy years after her father died, Selma learned with the help of 23andMe bits about her father’s history that she never knew before. She and her daughter Risa discovered the fate of his siblings. Some were indeed lost in the Holocaust but others survived. And most astounding of all, for Selma and her daughter, is that using 23andMe they were able to find some of her father’s family in Israel and travel to meet them in person including meeting Selma’s first cousin Fania.


“If my mother and I had not done this we would have never known,” Risa said. “She was so emotional, she cried when she found all this out… this has been one of the most amazing experiences of my life.”


This journey of discovery started when Risa and her brother Eric joined 23andMe. Risa was interested in learning more about herself and her ancestry. And then when her mother also used 23andMe, Risa helped her connect with a previously unknown relative named Ayelet, who lives in Israel.
<div id="attachment_22924" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22924" class="size-medium wp-image-22924" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/IMG_3721-300x225.jpg" alt="Risa and her cousin Ayet after meeting for the first time in Israel." width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/09/IMG_3721-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/09/IMG_3721-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/09/IMG_3721-1024x768.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/09/IMG_3721-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/09/IMG_3721-1180x885.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Risa and her cousin Ayelet after meeting for the first time in Israel.</div>
“I noticed that my mom and Ayelet shared DNA, including a segment that was completely identical,” Risa said.


Before that moment, Risa and her brother had assumed that all of her Grandfather’s family had been killed in the Holocaust. But she quickly learned that she had dozens of living relatives on that side of her family, who mostly live in Israel. Ayelet has a brother who had already done an extensive family tree and it proved to be a goldmine for Risa and her mother. Together with the help of Ayelet, Selma’s cousin Fania and another cousin named Naomi, they began filling in the pieces of their missing tree including finding the children and grandchildren of Selma’s uncles, her father’s brothers as well as the children of her aunt. They also learned more about Abraham’s life before he came to America, and that all but four of his siblings had survived the Holocaust, many of them had immigrated to Palestine before the war or wound up in Israel after it.
Ayelet’s great grandfather was Selma’s father’s brother. Ayelet had even known of Selma’s father – his Uncle Abraham – but he’d been told that Abraham had never made it out of
Russia. Selma’s cousin, Fania, however was told that Abraham had made it out and wound up in America, but she knew little else.
Their relatives in Israel were able to offer documents, photos and family history for Selma – information about her father that she never knew.
The documents had information about where he moved in Russia and then Poland, before he immigrated to America. Her cousin Fania recognized the photo of her grandparents that Risa and Selma had brought with them. Selma also learned more about his siblings, Moshe, Haya, Isaac, Slova, Rachel, Yaakov and Shlomo.
The trip allowed Risa and her mother to connect not just with family in Israel, but others in the US and in Russia, a total of more than 50 relatives in all.
“The process of finding our family has been an amazing experience. It was bashert — meant to be,” Risa said.  
“Thank you 23andMe for finding my family.”

Meant to Be

The sobering fact about drug development is that it takes too long and costs too much money. 23andMe wants to change all that.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23144" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/Slide3-e1445883959527-300x115.jpg" alt="Slide3" width="300" height="115" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Slide3-e1445883959527-300x115.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Slide3-e1445883959527.jpg 678w" sizes="auto, (max-width: 300px) 100vw, 300px" />
At the annual meeting of the American Society of Human Genetics this month, 23andMe computational biologist Fah Sathirapongsasuti offered some insight into how this is being done.
“It’s a well-appreciated fact among drug developers that genetic evidence can indicate success of a drug program, but until now, genetic data was hard to come by.”
In his presentation, Fah explained 23andMe’s unique drug discovery model, which has the promise of lowering the cost and accelerating the pace of drug discovery. This new model is also what is behind <a href="https://blog.23andme.com/news/23andme-therapeutics/" target="_blank" rel="noopener noreferrer">23andMe&#8217;s Therapeutics group</a>.
The current industry model isn’t working well, he said. Nine out of ten drugs deemed successful in animal studies fail in human clinical trials. And all that time and all those failures add up to staggering costs. Although there’s a<a href="http://www.nejm.org/doi/full/10.1056/NEJMp1500848"> dispute</a> about just how many hundreds of millions or billions it costs to develop a drug, no one disputes that finding new drugs is too slow and costs way too much.
But there’s another way, as Fah explained.
Simply using genome wide association studies can help improve success.
A<a href="https://www.nature.com/ng/journal/v47/n8/full/ng.3314.html"> recently published study</a> showed that starting with a GWAS could double the success rate of drug development. Another approach is to identify genetic variants that are protective and use those variants to zero in on promising drug targets. A well-known example of that approach is the work done by Amgen and Sanofi in the development of two recently approved drugs that target cholesterol-lowering variants in the gene PCSK9, Fah said.
But what makes 23andMe research model unique is its customers. So far we have more than a million, and 80 percent of them have chosen to participate in our research. They are also engaged and have shared more than 300 million data points about themselves that inform research. Our scientists can gather that information about health history, or drug sensitivity or ancestry and traits, into specific “phenotypes.”
We have more than a thousand phenotypes to work with such as phenotypes for cardiovascular and autoimmune diseases, as well as different forms of cancer and metabolic conditions, giving our researchers a tremendous resource to compare genetic information against.
That gives 23andMe researchers a huge head start, said Fah. Using that data, researchers first look at phenotypic information to find a candidate indication for genes that, in turn, can be easily targeted by antibodies. &nbsp;23andMe recently did just that with, studying 255 genes that code for cytokines and receptors, and focusing on those genes that have not yet been targeted by industry. About half of that total have not yet been used for drug targeting.
Finally screening those targetable variants in our database, our researchers found about two-dozen potential targets.
There’s a lot of additional work that goes into the process, for instance just determining whether these targets offer a plausible biological pathway that’s relevant to treating a disease.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23143" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/Slide2-300x169.jpg" alt="Slide2" width="300" height="169" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Slide2-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Slide2.jpg 720w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Fah illustrated this by looking at IL13, a gene that encodes a cytokine secreted by T helper cells that in turn mediate allergic inflammation. Looking at the phenotypic associations for variants in IL13, 23andMe researchers found a clustering of associations around asthma, certain types of food and animal allergies as well as skin conditions like psoriasis. &nbsp;And indeed IL13 is a known target for several drugs that are currently in phase II and phase III clinical trials.
“At 23andMe, we are turning the drug discovery process on its head,&#8221; said Fah. &#8220;Traditionally a pharmaceutical company starts with a disease of interest and combs the disease pathways for drug targets. &nbsp;We start from a set of druggable molecules and use our genetic database to guide us to the disease indications. &nbsp;Because we scan across a wide spectrum of disease and traits, we can choose the most promising targets to work with.”
This is still early in this new drug discovery approach, he said.
&#8220;We feel incredibly blessed to be working with this powerful database, with our customers as partners,” Fah said.
<div style="float: center; text-align: justified; width: 640px; background-color: #eee; padding: 15px; margin-left: 10px;"><img loading="lazy" decoding="async" class="alignright size-medium wp-image-23151" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/ASHG-15-Posters.001-300x225.jpg" alt="ASHG 15 Posters.001" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/ASHG-15-Posters.001-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ASHG-15-Posters.001-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ASHG-15-Posters.001-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ASHG-15-Posters.001.jpg 1024w" sizes="auto, (max-width: 300px) 100vw, 300px" /> 
Fah was not the only 23andMe scientist at American Society of Human Genetics this year. As we do each year, 23andMe had a strong showing, and our data was included in a number of presentations. This year we had two posters that were part of the conference.</div>
<div style="float: center; text-align: justified; width: 640px; background-color: #eee; padding: 15px; margin-left: 10px;">
&#8211; &#8220;<a href="https://blog-api.23andme.com/wp-content/uploads/2015/10/nfurlotte_ASHG_2015_final_approved.pdf" target="_blank" rel="noopener noreferrer">Deep Learning and the prediction of human disease risk</a>,&#8221; by Nicholas Furlotte, Babak Alipanahi and David Hinds
&#8211; <a href="https://blog-api.23andme.com/wp-content/uploads/2015/10/ASHG2015_AaronFinal.pdf" target="_blank" rel="noopener noreferrer">&#8220;Improving haplotype phasing accuracy using many short IBD segments,&#8221;</a> By Aaron Kleinman, Eric Durand and Cory McLean
</div>

23andMe And Drug Discovery

We’re returning one more time to the story of Jessica and Alice, and how they used 23andMe to unravel a <a href="https://blog.23andme.com/23andme-customer-stories/jesss-story/">century old mystery</a>.
<div id="attachment_22174" style="width: 236px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22174" class="wp-image-22174 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/02/Phil-and-Sam-226x300.jpeg" alt="Jess's grandfather Phil and her great grandfather Sam. " width="226" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/02/Phil-and-Sam-226x300.jpeg 226w, https://blogcms.23andme.com/wp-content/uploads/2015/02/Phil-and-Sam-662x880.jpeg 662w, https://blogcms.23andme.com/wp-content/uploads/2015/02/Phil-and-Sam.jpeg 665w" sizes="auto, (max-width: 226px) 100vw, 226px" />Jess&#8217;s grandfather Phil and her great grandfather Sam.</div>

We first <a href="https://blog.23andme.com/23andme-customer-stories/jesss-story/">wrote about the story</a> back in February 2015 and again <a href="https://blog.23andme.com/23andme-customer-stories/the-other-side-of-the-story/">a few weeks later</a>, and we aren’t the only ones fascinated by it.


Scott Fisher, the host of the syndicated family history radio program <a href="http://extremegenes.com/ep-104-23andme-dna-day-and-pursuing-a-jail-break/">Extreme Genes</a>, dedicated his most recent show to their story.
Fisher has <a href="http://extremegenes.com/story-and-photos-of-two-men-switched-at-birth-in-1913-with-their-oops-fathers/">a great interview</a> with Jess, Alice, and genetic genealogist CeCe Moore, who each detail how they worked over three years to piece together a mystery that probably couldn’t have been solved any other way, and it all started when Alice tested with 23andMe.


“I took a DNA test and the results came back all the way wrong,” Alice told Fischer.


Or at least that’s what she thought.
Raised to believe she was three-quarters Irish, Alice’s ancestry results came back showing that she had 50 percent Ashkenazi Jewish ancestry. This sparked what turned into years of trying to figure out if this was all a mistake or something else. Her mother and father weren’t around to ask anymore, so Alice eventually had all seven of her siblings tested with 23andMe.
They all showed the same result. They were half Ashkenazi.
How that was possible was the mystery to Alice, so she began working to solve it. She enlisted the help of CeCe, no stranger of difficult family mysteries, and the two got to work.
“There are unexpected surprises in pretty much every case I work on,” said CeCe.


This one was no different, and CeCe and Alice dove deeper looking at paper records and came up with some theories. If it was just Alice’s results that were different, perhaps the difference could be explained by a single infidelity, but everyone in her family had the same ancestry profile. Obviously something about their family history was different than they suspected. Alice’s father, James, had had a tough upbringing. He knew his parents but had been raised in an orphanage.
Alice began zeroing in on her father and the possibility that   he was switched at birth. But how could you figure something like that out?

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				Alice&#8217;s grandfather, John, who is believed to be Jess&#8217;s great-grandfather.
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				<img loading="lazy" decoding="async" width="150" height="150" src="https://blogcms.23andme.com/wp-content/uploads/2015/10/filename-1-150x150.png" class="attachment-thumbnail size-thumbnail" alt="" aria-describedby="gallery-1-23095" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/filename-1-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2015/10/filename-1-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2015/10/filename-1-372x372.png 372w" sizes="auto, (max-width: 150px) 100vw, 150px" />
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				Jess&#8217;s Grandfather, Phil.
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				Jess&#8217;s great-grandfather, Sam, who is believed to be Alice&#8217;s grandfather.
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				Alice&#8217;s Father, James.
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He was born at Fordham hospital in the Bronx in 1913, so CeCe and Alice began looking at birth records for babies born on the same day, in the same hospital. Perhaps, they thought, a nurse accidentally put Alice’s father in another child’s crib. CeCe and Alice even went so far as approaching the descendants of a man born that same day with a similar last name and had him test with 23andMe, but they found no match.


And then last year, Jessica, who lives in North Carolina, signed up for 23andMe. Like Alice she also got a big surprise.


“I knew my mom is Japanese, Filipino and Native American,” Jessica said.


Her dad was a bit of a mystery because he’d died when Jessica was still young, but she knew that he was Jewish. But the results came back and instead of showing she had Jewish ancestry, it showed she was a quarter Irish.
“It didn’t match what I knew,” Jessica said.
That might have been it, but that one of Alice’s nephews also tested with 23andMe. Alice found that she shared no DNA with him, that they in fact were not biologically related. Although that would seem to be another dead end, Alice knew that his results could help her solve the mystery.
When he shared with Alice some of his DNA Relative matches, she saw a name she didn’t recognize, Jessica.


“When I saw her listing, I started shaking,” said Alice.
She knew this could be the key.
So Alice sent her a message.
“Help solve a hundred year-old mystery,” Alice said in her message.
Jessica was intrigued.
When they connected, Alice immediately asked whether Jessica had been surprised by her ancestry results.
And then Alice floated her idea, that Jessica’s grandfather and Alice’s father, who were both born on the same day at the same hospital in the Bronx in 1913, had been switched at birth.
For Jessica, the whole thing sounded intriguing. She wanted to know. For Alice, who’d resigned herself to never solving the mystery, she could hardly contain herself.
When they shared family photos, it seemed even clearer that the mystery had been solved.


“You can’t look and come to any other conclusion,” said Fischer in the show.


For CeCe, the photos illustrate something she’s seen in many cases. Here are these two men, clearly not biologically related to the parents who raised them, and for those men how out of place they sometimes must have felt.
It’s also intriguing to think about how their lives might have been different, said Jessica.
“That might be the strangest part,” Jessica said. “They ended up living different lives.”

Family Mystery Solved with 23andMe

23andMe&#8217;s had a busy week with a lot of media coverage of our new customer experience.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23116" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/Anne-@-CBS-300x169.jpg" alt="Anne @ CBS" width="300" height="169" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Anne-@-CBS-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Anne-@-CBS.jpg 640w" sizes="auto, (max-width: 300px) 100vw, 300px" />
For everyone here at 23andMe, the notice is a nice moment after <a href="https://www.fastcompany.com/3052283/most-creative-people/how-ceo-anne-wojcicki-turned-23andme-around-after-falling-out-with-the-">two years of hard work</a>.
A lot went into the new experience, from extensive consumer comprehension studies to creative design work that better communicates sometimes <a href="https://www.23andme.com/membership" target="_blank" rel="noopener">complicated genetic results</a>, to hard science. In the end, we think all that work made a product that was already great, even better.


23andMe’s mission hasn’t changed. It’s still about finding the best tools to help people access, understand and benefit from the human genome. We think getting this right is important, and not just for us as a business. Empowering consumers with this information has the potential of impacting people&#8217;s lives, as our CEO and co-founder Anne Wojcicki told Fast Company.


&#8220;I think a lot about the consumer health movement, and I believe this is an important step forward,” Anne said.


Here&#8217;s a short round-up of some of the coverage:

&#8211; <a href="https://www.cbsnews.com/news/ceo-anne-wojcicki-on-return-of-23andme-direct-to-consumer-genetic-testing-privacy-of-data/" target="_blank" rel="noopener noreferrer">23andMe CEO on resuming genetic testing</a>


&#8211; <a href="https://www.fastcompany.com/3052553/behind-the-brand/23andmes-genetic-tests-are-back-on-the-market-and-they-doubled-the-price?partner=rss" target="_blank" rel="noopener noreferrer">23andMe&#8217;s genetic health tests are back on the market </a>
&#8211; <a href="http://www.usatoday.com/story/tech/2015/10/21/23andme-reboots-service-anne-wojcicki/74281804/">23andme relaunches its expanded DNA spit tests after FDA-mandated pause</a>
&#8211;
<a href="https://www.forbes.com/sites/matthewherper/2015/10/21/23andmes-triumph-and-the-long-road-ahead/">23andMe&#8217;s Triumph &#8212; And The Long Road Ahead</a>


&#8211; <a href="https://www.genomeweb.com/scan/23andme-back-health-game">23andMe, Back in the Health Game</a>
&#8211; <a href="https://www.bloomberg.com/news/articles/2015-10-21/23andme-s-new-dna-test-restores-some-health-analysis-for-199">23andMe&#8217;s New DNA Test Restores Some Health Analysis for $199</a>

23andMe In The News

By Kate Black, 
23andMe Privacy Officer and Corporate Counsel<img loading="lazy" decoding="async" class="alignright wp-image-23017 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/Kate-Black-preferred-200x300.jpg" alt="Kate Black preferred" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/Kate-Black-preferred-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2015/10/Kate-Black-preferred.jpg 576w" sizes="auto, (max-width: 200px) 100vw, 200px" />
In January, I joined 23andMe to oversee the privacy and security of our customers’ information. I am responsible for coordinating the many teams and team members across 23andMe who manage our website, conduct scientific research, and provide customer support to ensure that customer information remains appropriately safeguarded and secure. 
<h6>Privacy Center</h6>
I’ve had the exciting opportunity to elevate privacy and data protection practices in our newly redesigned website experience. As a part of that effort, we’ve built a new, easy to read <a href="https://www.23andme.com/privacy/">privacy center</a>, which contains some helpful information about 23andMe’s approach to privacy and security.
We’ve also updated our <a href="https://www.23andme.com/about/tos/">terms of service</a> and <a href="https://www.23andme.com/about/privacy/">privacy statement</a> to support our improved product.
<img loading="lazy" decoding="async" class="alignright wp-image-23111 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/lock-217x300.jpg" alt="lock" width="217" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/lock-217x300.jpg 217w, https://blogcms.23andme.com/wp-content/uploads/2015/10/lock-636x880.jpg 636w, https://blogcms.23andme.com/wp-content/uploads/2015/10/lock.jpg 709w" sizes="auto, (max-width: 217px) 100vw, 217px" />
I also spend time talking with 23andMe customers and potential customers about privacy and security related issues.
<h6>A Few Key Issues</h6>
Most people I speak with say they are concerned about the privacy of their genetic and personal information when signing up for and using 23andMe.
Specifically, individuals identify three main concerns:
<ol>
<li>How to manage sharing settings within 23andMe.com, including how and when other members can see their personal information within the our website.</li>
<li>How 23andMe uses customer information to conduct genetic research.</li>
<li>When and if third parties, such as family members, law enforcement, or insurance companies can get access to their information.</li>
</ol>
Over the next several months, I will dive deeper into each of these topics and others on this blog in an effort to be as transparent as possible about how 23andMe manages, shares, and protects our customers’ information.
I believe we have a responsibility to educate and inform our customers about how they can make meaningful choices regarding their information, and empower individuals to make the right choices for themselves and their families.
In the meantime, I hope you will take a moment to explore 23andMe’s new privacy <a href="https://www.23andme.com/privacy/">materials</a>.
Please also feel free to email us at <a href="mailto:privacy@23andme.com">privacy@23andme.com</a> if you have any questions or want more information about our privacy practices. 
We understand that your trust is vital to our business, and it’s my number one priority to earn that trust.

23andPrivacy

It wasn’t a wish, but on many of his birthdays, Lenny Scovel would take a minute and imagine the thoughts of a woman he’d never met.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22916" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/Lenny-quote-300x300.jpg" alt="Lenny quote" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-quote-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-quote-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-quote-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-quote-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-quote-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-quote-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-quote-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-quote-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-quote.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />


“I would wonder if my mother was out there somewhere thinking about me, perhaps saying, ‘Oh it’s my son’s birthday today,’” said Lenny, 52. 

<h6>Born in Greenville</h6>

Adopted as a baby, he never knew about his biological family, not even his ethnic origins.


“All I knew was that I was born in Greenville, South Carolina in 1963 at St. Francis Catholic Hospital,” said Lenny, who runs a wedding business in Colorado.


Whether his mother was wondering about him or not, isn’t known but there were people he didn’t know who were thinking about him.

<h6>Siblings Searching</h6>

For decades, Karen Bumgarner and her brother Terry McCutchen searched for their siblings scattered across the United States. They referred to their lost brothers and sisters as their “family diaspora,” a moniker coined by the first found brother, Richard Frazier.


Their mother, Jean Woodward, had had twelve children, but only kept Karen and Terry. Her first husband had served in the Army Air Corps and was killed in Germany during the Second World War, and in the decades that followed she married twice and became pregnant by several different men, and each of those children she gave up for adoption.
Over the years, Karen and Terry had succeeded in finding several of those children, largely thanks to the ceaseless efforts of Terry’s wife Kathy. But sometimes they had little to go on. For one of their brothers all they had was:


“Boy. South Carolina. 1963.&#8221; 
 
<h6>Origins</h6>

They had no idea how to find him. This was long before the advent of direct-to-consumer genetic testing services like 23andMe. There seemed little hope that they’d ever find their brother.
Although Lenny Scovel often wondered about his biological mother, he didn’t feel abandoned. He felt lucky to have been adopted and raised by a loving couple, Don and Mary Scovel. He just always wondered where he came from.
<div id="attachment_22918" style="width: 203px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22918" class="size-full wp-image-22918" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/10356315_10152545668998277_9759572226819466_n.jpg" alt="Lenny and his adoptive father Donald Scovel." width="193" height="253" />Lenny and his adoptive father Donald Scovel.</div>
“I’m eternally grateful to my parents,” he said, “but my biological origins have been my life’s curiosity.”


After seeing the 2013 movie Philomena, a moving story about an Irish Catholic woman’s search for the son she gave up for adoption, Lenny redoubled his interest in finding out more about his origins.
<h6>Using DNA</h6>
But it was his wife who helped push him along, purchasing a 23andMe kit for him as a Christmas gift in 2014. The thought was that at the very least, he would learn definitively what his ethnicity was.
“Even the lack of ethnic identity has been a gaping hole in me for 51 years,” he said.


A few weeks later he did indeed learn about his ancestry – he didn’t just have English and Irish ancestry, but also Norwegian and a little Native American ancestry as well.
Yet it was a connection with another 23andMe customer that sparked the revelation. 23andMe identified someone he initially thought was a cousin, named Tania B. This was the first time he’d ever connected to any biological relative.
“I immediately sent her a message,” he said. “What happened in the next few hours was unbelievable and overwhelming.”


Tania confirmed that she was a relative but they weren’t cousins: Tania was likely his half-niece and her father was Lenny’s half-brother, Randy Bryan.


“Like dominoes, my family began to fall into place,” Lenny said. “I soon had three half-brothers and three half-sisters. As incredible as that is, we believe there are at least four more!”
<div id="attachment_22917" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22917" class="wp-image-22917 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/Lenny-and-Siblinhgs-300x225.jpg" alt="Lenny and Siblinhgs" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-and-Siblinhgs-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-and-Siblinhgs-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-and-Siblinhgs-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/09/Lenny-and-Siblinhgs.jpg 960w" sizes="auto, (max-width: 300px) 100vw, 300px" />Lenny, on the far right, with his siblings. From left to right and in birth order: Terry McCutchen, Karen Bumgarner, Bonnie Frank, Richard Frazier, Randy Bryan, and Becky Nolen. (Photo: Lenny Scovel)</div>
<h6>
 A Blessing</h6>

Their mother, who’d been born in 1922, had died in 2000. She’d married at 19, had two children – Terry and Karen – but her husband was killed during the war. Jean married at least two more times and had several children from several different men.
But a lot of that information her children didn’t piece together until she was diagnosed with cancer. Her daughter Karen sat with her before she died and attempted to get from her a list of those lost children. One of the last things she told them was about a son, born in 1963 in South Carolina.
It would be almost 15 years before they could find him with the help of 23andMe. For Lenny, it was the fulfillment of a life long quest.


“At last, my life’s great mystery finally revealed itself,” he said. “What an incredible blessing.”

<h6>Connecting</h6>

In June of 2015, seven of the twelve siblings met for what they called a “union-reunion” in the town of Sisters, Oregon. It was the first time Lenny was able to meet his brothers and sisters.
&#8220;They were all ready for me,” he said.
At the reunion, the siblings toasted their mother, talked about their lives and family, and pledged to continue to search for the siblings yet to be found.
“There is no way Jean could have ever imagined that moment, with so many of us together,” says Lenny, “but we all owe our lives to her, and in spite of what you might consider her questionable choices, we are all so grateful for our lives, and for each other.”

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