<h6 class="wp-block-heading" id="h-novel-insights-from-a-landmark-study-using-genomic-dataset-with-unprecedented-diversity">Novel insights from a landmark study using genomic dataset with unprecedented diversity</h6>



Did you know that your genetic makeup could hold important clues about your risk for depression? A groundbreaking new study, led by the University of Edinburgh and King’s College London, has analyzed the genomes of over five million people across 29 countries, including a pool of 23andMe research participants who consented to participate in studies like this.&nbsp;



Using this collaborative approach, the study uncovered nearly 300 previously unknown genetic links to depression. Crucially, it included participants from African, East Asian, Hispanic, and South Asian backgrounds, marking a significant departure from previous studies that overwhelmingly focused on individuals of European descent.



This diversity wasn’t just a milestone for representation; it was key to the study’s success. Among the newly discovered genetic variants, 100 were identified solely because of the inclusion of these underrepresented populations.&nbsp;



In total, researchers found nearly 700 genetic variations linked to depression, implicating 308 specific genes. Many of these genes are associated with neurons in brain regions that regulate emotion, offering fresh insights into depression’s biological underpinnings.



<h2 class="wp-block-heading">Depression: A Closer Look at Genetics</h2>



As winter drags on, the dark days and cold temperatures are a drain on everyone&#8217;s mood. For people predisposed to depression, though, it can mean more than that. While two people might go through the same long, dark winter, one person might feel pretty much normal, while the other might experience it as a trigger for the changes to mood, cognition, energy, sleep, appetite and more that define depression.&nbsp;



What makes some people prone to depression, and not others? <a href="https://www.23andme.com/topics/health-predispositions/depression/">Depression impacts 1 in 5 people in the U.S. in their lifetimes</a>, making it one of the most common mental illnesses. But scientists are still learning more about what contributes to an individual&#8217;s risk for depression.&nbsp;



It&#8217;s already known that the risk is increased by going through stressful life experiences like childhood adversity, discrimination, or serious health problems. And we’ve long known from family studies that depression can run in families, hinting at a genetic component.&nbsp;



Pinpointing the exact genetic factors at play has been challenging. Researchers use genome-wide association studies (GWAS) to uncover genetic variants — small differences in DNA — that might influence the likelihood of experiencing depression. However, these studies require enormous datasets to find statistically significant patterns.



<h2 class="wp-block-heading">Diversity Drives Breakthroughs in Depression Research</h2>



The results of this new study from the University of Edinburgh and Kings College London stand out for the diversity of the data set and have implications for reducing ethnic disparity in future advances in genomic medicine. The more we know about the genetics of depression in people of a given ancestry, the better our ability to predict which individuals are most likely to experience depression in that group.



The study’s findings also open up exciting avenues for treatment. Researchers identified genes targeted by existing antidepressant medications and flagged new ones that could lead to novel therapies. Intriguingly, the results highlighted two drugs — pregabalin, used for chronic pain, and modafinil, used for narcolepsy — as potential candidates for repurposing to treat depression. While more research is needed, these findings could pave the way for more effective treatments in the future.



<h2 class="wp-block-heading">23andMe’s role in advancing genomic research</h2>



23andMe&#8217;s diverse group of research participants has enabled us to conduct or contribute to <a href="https://www.23andme.com/publications/">more than 250</a> studies on a wide range of conditions, including collaborations like this study.&nbsp;



It&#8217;s also made it possible for us to offer cutting-edge genetic reports on predispositions to depression, anxiety, bipolar disorder, and more. These reports, based on methodology called polygenic scores or PRS, let individuals understand what genome-wide association study findings mean for themselves. Knowing that you have an increased likelihood of depression or another condition based on genetics can help individuals identify potential symptoms early and seek support when needed. And for many, understanding the genetic component of their condition can help reduce feelings of self-blame and stigma.&nbsp;



Our <a href="https://blog.23andme.com/articles/23andmes-new-depression-report">Depression PRS report, part of 23andMe Premium</a>, is available to people from six major ancestry groups, again thanks to our diverse research participants that enabled us to scientifically validate the model in all these ancestries.



<h2 class="wp-block-heading" id="h-how-to-be-a-part-of-depression-genomics-research">How to be a part of depression genomics research</h2>



This study — made possible by the contributions of 23andMe research participants — marks a significant step forward in understanding the genetics of depression, but there&#8217;s still more to do. If you&#8217;re a 23andMe customer and you&#8217;re interested in contributing to more research studies like this one, you can learn more <a href="https://www.23andme.com/research/">here</a> about how to get involved.



<h2 class="wp-block-heading" id="h-nbsp-key-takeaways">&nbsp;Key Takeaways</h2>



<ul class="wp-block-list">
<li>Depression affects millions, but this groundbreaking study uncovers nearly 700 genetic links to the condition, including discoveries made possible by the inclusion of diverse populations.</li>



<li>The findings offer insights into the biological underpinnings of depression and potential new treatment options.</li>



<li>23andMe’s Depression PRS report empowers individuals to understand their genetic likelihood and take more control of their mental health journey.</li>
</ul>



<h3 class="wp-block-heading" id="h-references">References</h3>



<a href="https://www.apa.org/topics/depression" target="_blank" rel="noreferrer noopener">American Psychological Association. &#8220;Depression.&#8221; Retrieved March 8, 2023, from https://www.apa.org/topics/depression.</a>  



<a href="https://www.cdc.gov/learnmorefeelbetter/programs/depression.htm" target="_blank" rel="noreferrer noopener">Centers for Disease Control and Prevention. &#8220;Managing Depression.&#8221; Retrieved March 17, 2023, from https://www.cdc.gov/learnmorefeelbetter/programs/depression.htm.</a>



<a href="https://www.nami.org/About-Mental-Illness/Mental-Health-Conditions/Depression" target="_blank" rel="noreferrer noopener">National Alliance on Mental Illness. &#8220;Depression.&#8221; Retrieved March 8, 2023, from https://www.nami.org/About-Mental-Illness/Mental-Health-Conditions/Depression.</a>



<a href="https://pubmed.ncbi.nlm.nih.gov/31006406" target="_blank" rel="noreferrer noopener">Øverland S et al. (2019). &#8220;Seasonality and symptoms of depression: A systematic review of the literature.&#8221; Epidemiol Psychiatr Sci. 29:e31.</a>  



<a href="https://pubmed.ncbi.nlm.nih.gov/24721040/" target="_blank" rel="noreferrer noopener">Sarris 2014. &#8220;Lifestyle medicine for depression.&#8221; BMC Psychiatry. 2014 Apr 10;14:107.</a> https://pubmed.ncbi.nlm.nih.gov/24721040/



<a href="https://pubmed.ncbi.nlm.nih.gov/29450462/" target="_blank" rel="noreferrer noopener">Hasin DS et al. (2018). &#8220;Epidemiology of Adult DSM-5 Major Depressive Disorder and Its Specifiers in the United States.&#8221; JAMA Psychiatry. 75(4):336-346.</a> https://pubmed.ncbi.nlm.nih.gov/29450462/

Landmark study breaks new ground in depression genetics research

Scientists at 23andMe, with support from The Michael J. Fox Foundation for Parkinson’s Research, have researched Parkinson&#8217;s disease and uncovered new insights into the natural history of the <a href="https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awae073/7676517">LRRK2 G2019S variant</a>. The findings, tracing back thousands of years, vividly illustrate how our DNA combines history, ancestry, and health. They remind us how important knowing one is for understanding the other.



<h2 class="wp-block-heading" id="h-your-genetic-ancestry-relates-to-health">Your Genetic Ancestry Relates to Health</h2>



While some of us use 23andMe to learn more about our health and others to learn about our ancestry, your DNA isn&#8217;t just about one thing or the other. Your DNA intricately weaves together not just your health and ancestry but much more, connecting you to the long thread of human history and offering insight into the origin of diseases like Parkinson&#8217;s.&nbsp;



The history of the LRRK2 G2019S variant and its geographical distribution in disparate communities are telling.



“The fact that the LRRK2 G2019S variant is found in North African Arabs, Ashkenazi Jews, Sephardic Jews, and populations in Latin America and the Caribbean tells a story of our shared genetic roots,” said Lucy Norcliffe-Kaufmann, Ph.D., Principal Scientist with 23andMe’s Parkinson’s Disease Research program.



<h2 class="wp-block-heading" id="h-the-founder-mutation">The Founder Mutation</h2>



Studying specific genes, like LRRK2, can teach us much. The LRRK2 variant—also known as the LRRK2 G2019S founder mutation—is strongly associated with a particular form of Parkinson&#8217;s disease, which we&#8217;ll briefly detail.&nbsp;



First, let&#8217;s explain a founder mutation. A founder mutation refers to genetic variants arising from a population&#8217;s loss of genetic variation. This happens when a distinctive population emerges from a small number of people isolated by geography or culture for a considerable time.&nbsp;



The isolation of small populations can result in a higher-than-average frequency for specific genetic variants within that population.&nbsp;



For example, over generations, the geographic isolation of Finnish people led to a founder mutation that puts them at a higher risk for a kidney condition known as <a href="https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type">congenital nephrotic syndrome</a>. The isolation of French Canadians in Quebec offers another example. That isolation led to a founder mutation in the BRCA1 and BRCA2 genes that puts them at higher risk for breast and ovarian cancer.&nbsp;



Some of the most well-known founder mutations are among people with Ashkenazi Jewish ancestry. Isolated over time by culture, religion, and, in some cases, geography led to higher incidences of specific genetic variants within Ashkenazi populations. These genetic variants put them at higher genetic risk for breast and ovarian cancer.&nbsp;



But people of Ashkenazi ancestry are also more likely to have the LRRK2 G2019S founder mutation that puts them at more risk for a specific type of Parkinson&#8217;s disease.



<h2 class="wp-block-heading" id="h-lrrk2-associated-parkinson-s">LRRK2-Associated Parkinson&#8217;s</h2>



Looking specifically at LRRK2 G2019S, the variant doesn&#8217;t just convey an increased risk for Parkinson&#8217;s. People who develop the disease who have the variant also have different types of symptoms than others with Parkinson&#8217;s but who do not have the LRRK2 variant.&nbsp;



23andMe researchers <a href="https://academic.oup.com/brain/article-lookup/doi/10.1093/brain/awae073">recently published data in </a>Brain, that looks at some of those differences.&nbsp;



People with LRRK2-associated Parkinson&#8217;s disease tend to have a slower progression of the disease, with symptoms more related to motor dysfunction. People with this LRRK2 variant also have lower rates of <a href="https://www.michaeljfox.org/news/ask-md-acting-out-dreams-and-parkinsons-disease">REM sleep behavior disorder</a> or RBD, which is a common symptom of Parkinson&#8217;s, particularly in the early stages. RBD includes sleep interrupted by acting out dreams and is much more common in people with idiopathic Parkinson&#8217;s disease, or Parkinson&#8217;s, in which the cause is unknown. 



<h2 class="wp-block-heading" id="h-different-types-of-symptoms">Different Types of Symptoms</h2>



Loss of smell, another common symptom of Parkinson&#8217;s, is also less common in those with the LRRK2 variant. This is important because when we look for people with early Parkinson’s disease, we ask about loss of smell and RBD to determine whether there are early signs of neurodegeneration in the brain. We might be underestimating the risk of Parkinson’s disease in someone with the LRRK2 variant because they are less likely to have sleep and smell problems.&nbsp;



In addition, people with LRRK2-associated Parkinson&#8217;s have fewer cognitive issues and seem to be at a lower risk for developing dementia. This suggests that the LRRK2 variant leads to a slowly primarily progressive motor form of Parkinson’s disease, in which the neurodegenerative process appears to be restricted to areas of the brain that control movement. The data suggests that in LRRK2 Parkinson’s disease, the areas outside the motor control regions are spared from the neurodegenerative process, so we see fewer autonomic, cognitive, sleep, and smell issues in carriers that develop the disease.&nbsp;



The researchers point out that it’s unusual to see a dominant mutation like LRRK2 so prevalent across different communities, but that may be partly because of the later onset of LRRK2-associated Parkinson’s. Symptoms tend to show when people are in their 60s and well past reproductive years.



“This explains why the variant can be harbored in a community and flourish in subsequent generations, particularly in communities that remain isolated by persecution or geography,” Lucy said.&nbsp;



These differences beg many questions, but they also offer potential avenues of inquiry that could give researchers insights into how to treat different types of Parkinson&#8217;s disease better. The majority of Parkinson’s cases do not have a known cause, but in the case of LRRK2, because the association is known, knowing that you have the variant sooner can lead to earlier treatment and better outcomes.



To develop new therapies, scientists need to learn more about who is at risk, why, and the earliest signs of the disease.



<h2 class="wp-block-heading" id="h-the-origins-of-lrrk2-variant">The Origins of LRRK2 Variant</h2>



Beyond that, tracing where and when the LRRK2 G2019S founder mutation originated offers other opportunities to find carriers in diverse populations and build community among those people.&nbsp;



Looking at the history of the LRRK2 founder mutation also offers insight into human migration and some of the people most impacted by it. One of the novel findings of this study is the identification of “hotspots” of people from Mexico, Cuba, Puerto Rico, and Brazil who carry the LRRK2 G2019S mutation at higher rates. This is interesting because it explains the migratory history of the populations most affected by this mutation.



Scientists believe the LRRK2 founder mutation originated over 5000 years ago among the Berber people of North Africa in what is now Morocco. Rates of LRRK2 are higher within North African populations, but why are there also higher incidences of people with LRRK2 within people of Ashkenazi Ancestry?



Why is LRRK2 also found in higher frequency in North Africa and parts of Spain, Eastern Europe, Cuba, and Puerto Rico? That latter finding for a higher frequency of people in the Latin Caribbean community with higher rates of this variant is a new finding from this research by 23andMe, and it begs the question of why we see those higher rates.



The answer lies in the unique history of people of Jewish ancestry, shaped by trade routes around the Mediterranean and historical events like the Muslim Arab expansion, the Crusades, the Inquisition, and the colonization and migration into the Americas.&nbsp;



<h2 class="wp-block-heading" id="h-tracing-lrrk2">Tracing LRRK2</h2>



Scientists believe the LRRK2 founder mutation originated in the Berber populations of North Africa and then passed through the Maghrebi into the Jewish communities that arrived there, having fled the Roman invasions of Jerusalem.



The Maghrebi were mostly traders connected to other Jewish communities by religion and trade routes that crisscrossed the Mediterranean. The Berbers and the new Jewish settlers lived side by side, and many Berbers converted to Judaism, which is likely how the LRRK2 G2019S variant moved from the Berbers to the North African Jews.&nbsp;



Some of those communities eventually migrated from North Africa to mainland Europe with the Arab invasions. Around 1,500 years ago, about eight percent of people living in Spain were of Jewish descent. Within a couple of hundred years, the Jewish population split, with the Ashkenazi group settling in Germany, France, and Eastern Europe and speaking Yiddish. Meanwhile, the Iberian-Arab Jews, later known as the Sephardic Jews, moved to and from North Africa to Spain and Portugal over the next hundreds of years.&nbsp;



While different significant historical events, such as Muslim Arab expansion and later the Crusades, influenced the movement of these people, we can already see that the LRRK2 G2019S variant was present in both the Ashkenazi and Sephardic Jews. The Ashkenazi Jews went through what we call a genetic bottleneck, which reduced the population pool to a small number of founders, some of whom carried the G2019S variant. This is how the carrier rate amplified as the small surviving population recovered and expanded over subsequent generations.&nbsp;



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="512" height="252" src="http://35.88.189.111/wp-content/uploads/2024/05/LRRK2-Hotspots.jpg" alt="Heat maps of different areas in Latin America, and the Caribbean where there are hotspots for LRRK2." class="wp-image-32943" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/LRRK2-Hotspots.jpg 512w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/LRRK2-Hotspots-300x148.jpg 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>



<h2 class="wp-block-heading" id="h-the-new-world">The New World </h2>



By the time the Inquisitions arrived, many of what became the Sephardic Jewish community in Spain and Portugal were expelled or forced to convert to Catholicism. Their religion may have changed, but their genetics did not. Some forced converts fled to the Americas after 1492 as Spain conquered the New World. This is how the G2019S variant winds up in Latin America and Brazil.&nbsp;



Using data from 23andMe research participants who consented to participate in this research, 23andMe scientists plotted on a map where those with the LRRK2 variant trace their ancestry.&nbsp;



The maps note the fingerprints of that migration history with the highest concentrations for the mutation in people with genetic ancestry from North Africa, Eastern Europe, Puerto Rico, Cuba, and parts of South America.



“The fact that we see the LRRK2 G2019S variant signal in the Caribbean maps fits with the history of the Jewish Conquistadors who sailed with Columbus on his voyages to the New World,” said Lucy.&nbsp;



We also see strong signals in Brazil, one of the first South American countries to allow Jewish people to live and practice freely.&nbsp;



“(The finding) extends beyond the classic assumption that LRRK2 PD occurs in North African Berbers and the Ashkenazi Jews,” Lucy said. “It is an example of how mutations migrate and can spring up in new founding communities.”



<h2 class="wp-block-heading" id="h-23andme-s-ongoing-parkinson-s-research">23andMe&#8217;s Ongoing Parkinson&#8217;s Research</h2>



Understanding this history and the significance of a person&#8217;s ancestry related to the LRRK2 G2019S mutation and its link to a higher risk for Parkinson&#8217;s disease allows researchers to build awareness within these communities.&nbsp;



This, in turn, may help improve how we screen for the disease and how to build a broader community around this specific type of Parkinson&#8217;s disease.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="779" src="http://35.88.189.111/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-1024x779.png" alt="Mapping of LRRK2 PD symptoms to areas of the brain." class="wp-image-32942" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-1024x779.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-300x228.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-768x584.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-880x670.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-1180x898.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain.png 1899w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



The LRRK2 study, known as our Parkinson&#8217;s Impact Project, or PIP, has already produced tremendous insights into the disease. It helps scientists better understand the progression of Parkinson&#8217;s and how LRRK2 PD differs from idiopathic Parkinson&#8217;s, for which there is no known cause.&nbsp;



This study is just one of many aspects of 23andMe&#8217;s long-standing commitment to studying Parkinson&#8217;s, the second most common neurodegenerative condition behind Alzheimer&#8217;s disease.&nbsp;



23andMe researchers have studied the genetic underpinnings of Parkinson&#8217;s disease since 2009. More than 30,000 people with Parkinson&#8217;s have consented to participate in our research, and more than 196,000 people without Parkinson&#8217;s also participate in this specific research.&nbsp;



Those participants have helped 23andMe scientists and our collaborators complete work leading to more than 30 published papers, including 12 since 2020 alone. These studies have also identified almost 100 new genetic variants associated with Parkinson&#8217;s disease. It also allows 23andMe scientists and our collaborators to explore in much more detail the role these variants play in the progression of the disease.&nbsp;



The work on LRRK2 G2019S is part of that broader effort. The number of people with the LRRK2 mutation participating in 23andMe research is three times the size of the next largest LRRK2 research cohort. Some of those participating in 23andMe LRRK2 research have Parkinson&#8217;s, and others don&#8217;t.&nbsp;



As we learn more, we will share more about this study&#8217;s relevance to the disease progression and symptoms.&nbsp;



<h2 class="wp-block-heading" id="h-learn-more">Learn More</h2>



None of this work would be possible without those individuals. Those who consented to participate in 23andMe&#8217;s research included people with and without Parkinson&#8217;s disease.



Learn more about <a href="https://www.23andme.com/pd/">23andMe&#8217;s Parkinson&#8217;s disease research here</a>. 



<h2 class="wp-block-heading" id="h-the-23andme-s-parkinson-s-disease-genetic-health-risk-report">The 23andMe&#8217;s Parkinson’s Disease Genetic Health Risk Report</h2>



You can learn whether you may have an increased risk of developing Parkinson’s disease based on your genetics through the 23andMe Parkinson’s Disease Genetic Health Risk report.*



The report looks at two specific genetic variants associated with Parkinson’s disease, one in the LRRK2 gene and one in the GBA gene. This report is included in the <a href="https://www.23andme.com/dna-health-ancestry/">23andMe Health + Ancestry Service.</a>



<h2 class="wp-block-heading" id="h-note">Note</h2>



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. The Parkinson’s Disease genetic health risk report is indicated for reporting of the G2019S variant in the LRRK2 gene, and the N370S variant in the GBA gene and describes if a person has variants associated with an increased risk of developing Parkinson’s disease. The variants included in this report are most common and best studied in people of European, Ashkenazi Jewish, and North African Berber descent.

The Natural History of a Genetic Variant Associated with Parkinson’s Disease

23andMe recently launched a genetic study of<a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/"> Idiopathic Pulmonary Fibrosis (IPF)</a>, a rare disease that results in scarring of the lungs and for which there is currently no cure.
<h6>Studying the Genetics of IPF</h6>
The hope is that this study will help generate genetic information offering new insight and potential treatments. This disease itself is particularly insidious. It results in scarring of the lungs (fibrosis), which in turn increasingly hampers the ability of the lungs to transport oxygen to other organs. This makes it difficult for those suffering from the disease to catch a breath.
This is the first genetic study 23andMe researchers have undertaken on a rare disease. A disease is deemed “rare” if it affects<a href="https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases"> fewer than 200,000</a> people in the United States. Often because a rare disease affects fewer people there is less market incentive to develop a treatment for these conditions. While individually these conditions are uncommon, there are more than 7,000 rare diseases that have been identified which impact an estimated 30 million people in the United States, according to the NIH. Research on these conditions has been historically limited and slow.
Like many rare diseases, genetics likely plays an important role in why some people develop IPF, and this is where the 23andMe research model could help. Through our study, people living with IPF can provide genetic information and invaluable insight that can bring us closer to future treatment discovery.
<h6>Eligibility</h6>
For 23andMe’s Idiopathic Pulmonary Fibrosis<a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/"> research</a> our goal is to enroll 1,000 individuals with IPF. To participate in this study you must:
<ul>
<li>Have been diagnosed with IPF or Hermansky-Pudlak syndrome (HPS)*</li>
<li>Are 18+ years old</li>
<li>Live in the US</li>
</ul>
If you or someone you know is interested in learning about 23andMe’s study, click<a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/"> here</a>.
*We are including participants with Hermansky-Pudlak syndrome in this study because the pulmonary fibrosis that can develop in these individuals is very similar to IPF. If a new treatment for IPF is developed as a result of this research, this treatment may also help individuals with Hermansky-Pudlak Syndrome.
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Illustration for Idiopathic Pulmonary Fibrosis

23andMe to Study Idiopathic Pulmonary Fibrosis

An overwhelming majority of people with depression or bipolar disorder wants better treatment options and care, according to a first-of-its-kind survey by The Milken Institute.<img loading="lazy" decoding="async" class="alignright wp-image-27167 size-medium" title="23andMe's Depression and Bipolar Disorder Study" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/23andMe_MDDBDStudy_icon_645-300x300.jpg" alt="" width="300" height="300" />
The Milken Institute, one of two collaborators with<a href="https://www.23andme.com/depression-bipolar/"> 23andMe’s Depression and Bipolar Study</a>, began the survey last year. The survey involved more than 6,405 individuals who reported experiencing one or both of the conditions. About a third of those surveyed also are participants in 23andMe’s Depression and Bipolar Study. Among other things, the<a href="https://www.milkeninstitute.org/reports/supporting-wellness-initial-findings-survey-lived-experience-and-research-priorities"> survey</a> found that 89 percent of those with one or both of the conditions said there was a need for better treatments and care.
“Why aren’t there more options in treating depression?” one of the survey respondents asked. “Trial and error of creating the right cocktail of drugs should not be commonplace.”

<h6>23andMe Depression and Bipolar Study</h6>
The findings also support the basis of 23andMe’s Depression and Bipolar Study. The study  enrolled 25,000 participants diagnosed with depression or bipolar disorder and another 25,000 research participants who do not have the condition to study.
Researchers are exploring the underlying genetics and other factors that contribute to developing depression and or bipolar disorder.  The ultimate goal of the research is to improve the lives of people living with these conditions. That might come through better treatment options, a goal that aligns with those with the conditions who responded to the survey.<img loading="lazy" decoding="async" class="alignright wp-image-27166 size-medium" title="The study of depression and bipolar disorder" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/0-300x200.png" alt="" width="300" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/0-300x200.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/0-768x512.png 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/0-1024x682.png 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/0-880x586.png 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/0-1180x786.png 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2019/06/0.png 1255w" sizes="auto, (max-width: 300px) 100vw, 300px" />
<h6>Collaborations</h6>
Along with the Milken Institute, 23andMe is collaborating with Lundbeck, a global pharmaceutical company tirelessly dedicated to restoring brain health, so every person can be their best.
The researchers are still combing through the data for that study. At the same time, 23andMe continues to collaborate with other research institutions and universities looking at these conditions.
Most recently, 23andMe contributed data used in a<a href="https://blog.23andme.com/23andme-research/new-insights-into-the-genetics-of-depression/"> genetic study</a> by the University of Edinburgh published in the journal<a href="https://www.nature.com/articles/s41593-018-0326-7"> Nature Neuroscience</a> earlier this year. That study found more than 200 genes associated with depression. Many of the strongest associations were in genes involved in neurotransmission and response to stimuli that are part of the central nervous system. The findings highlight the importance of studying cortical regions of the brain and their role in the condition, according to the researchers.
<h6>The Milken Survey</h6>
The intent of Milken Institute’s survey was to learn more about the experience of those with depression or bipolar disorder or both. The survey was conducted along with the<a href="https://www.dbsalliance.org/"> Depression and Bipolar Support Alliance.</a>  The group hopes to use those insights to prioritize the direction of research.
But the survey also offered some insight into the two conditions. It indicated that more often than not, depression and bipolar go hand-in-hand. About 33 percent of those surveyed said they were diagnosed with both depression and bipolar disorder. Another 21 percent said they were diagnosed with one condition, but experienced symptoms of the other. For researchers, it suggests that the conditions fall across a spectrum. They may not be distinct, although they are often diagnosed that way.
Finally, the survey asked about the age when symptoms first appeared. This revealed a potential gap in research. Almost 70 percent of those surveyed said their symptoms began in childhood. More than a quarter said the symptoms started before the age of 12. The significance here is that many organizations that track the condition report onset in early adulthood. That means that they may be missing a key period of onset.
This new survey offers essential insights into the conditions. But it also is notable for focusing on the input of people with depression or bipolar disorder, or both.

Better Treatment and Care Needed for People with Depression

By Anne Wojcicki
Today, 23andMe was granted authorization by the U.S. Food and Drug Administration (FDA) to market the Bloom syndrome carrier status report. This is an important first step in fulfilling our commitment to return genetic health reports to consumers in the US.<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://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
This is also the first-time the FDA has granted authorization to market a direct-to-consumer genetic test, and it gives 23andMe a regulatory framework for future submissions. While this authorization is for a single carrier status test only, we are committed to providing US customers with health information once more tests have been through this process and we have a more comprehensive product offering.
The FDA has been incredibly responsive throughout our review and the agency has demonstrated its support for direct to consumer genetic testing. We will continue to work with the FDA to ensure that all future health submissions meet the agency&#8217;s standards.
It’s been a challenging and exciting time for consumer genetics. Our customers support and the stories they shared along the way make my job worthwhile.  I will continue to provide our customers with updates on our blog and by email. We’ve also posted more information about the authorization <a href="https://blog.23andme.com/news/what-the-fda-decision-means-for-23andme-customers/" target="_blank" rel="noopener noreferrer">here</a>.
I want to thank our customers for their ongoing support during this process.
&nbsp;

A Note to Our Customers Regarding the FDA

What does getting this marketing authorization mean for existing and <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://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />future customers?

As the first direct to consumer genetic test to complete the regulatory pathway, 23andMe’s Bloom Syndrome Carrier Status test was given marketing authorization through the de novo pathway. This is the first direct-to-consumer genetic test granted marketing authority by the agency.
Because this process was successful, we may be able to submit some future submissions through the standard 510(k) pathway.
In addition to the authorization to market the Bloom Syndrome Carrier Status test report, the FDA is also classifying autosomal recessive carrier screening tests as class II with the intention to exempt such carrier tests from FDA premarket review.
According to the FDA’s press release, the “agency plans to issue a notice that announces the intent to exempt these tests and that provides a 30-day period for public comment. This action creates the least burdensome regulatory path for<a href="http://ghr.nlm.nih.gov/handbook/illustrations/autorecessive"> autosomal recessive</a> carrier screening tests with similar uses to enter the market.”


This is the first step in our commitment to returning health information to our customers.   We will continue to keep our community informed of our progress, but will not return results on individually cleared reports until we complete the regulatory process on additional health reports and have a more comprehensive product offering.

<h6>
What is Bloom syndrome?</h6>

Bloom syndrome is a rare disorder that is more common in people of Central and Eastern European, or Ashkenazi, Jewish background. One in 107 people of Ashkenazi Jewish descent are carriers for <a href="https://www.nature.com/gim/journal/v10/n6/full/gim200872a.html" target="_blank" rel="noopener noreferrer">Bloom syndrome</a>. The disorder is characterized by among other things short stature, sun-sensitive skin changes and an increased risk of cancer. According to the National Institute of Health, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

<h6>
Does this mean 23andMe will again provide health reports to new customers in the US?</h6>

This is the first step in our commitment to returning health information to our customers.   We will continue to keep our community informed of our progress, but will not return health results on individually cleared reports until we have a more comprehensive product offering.

<h6>
Can I have access to my report for Bloom syndrome?</h6>

23andMe will not be making any health reports, including the report for Bloom syndrome Carrier Status test available to customers until we have a more comprehensive health product offering.

<h6>
What does it mean to be granted a de novo authorization?</h6>

23andMe submitted a 510(k) application for its direct-to-consumer Bloom syndrome Carrier Status Test.  A 510(k) is a premarketing submission made to FDA to demonstrate that the device to be marketed is substantially equivalent to a legally marketed device. The submission was converted to a de novo request.
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 a device when there is no substantially equivalent product with which to compare it.
De novo marketing authorization means that 23andMe met the FDA’s premarket requirements to demonstrate the following: accuracy, validity and user comprehension.
Devices that are classified through the de novo process may be marketed and used as predicates for future 510(k) submissions.

<h6>
What happened to the original 510(k) submission?</h6>

The original 510(k) submission was converted to a de novo request.  23andMe submitted a 510(k) application for its direct-to-consumer Bloom syndrome Carrier Status Test.  A 510(k) is a premarketing submission made to FDA to demonstrate that the device to be marketed is substantially equivalent to a legally marketed device. 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. The de novo process is used by the FDA to grant marketing authorization for a device when there is no substantially equivalent product with which to compare it.

<h6>
When will you be getting clearance for the other health reports?</h6>

This submission was for one health report, and is part of the FDA’s regulatory review of our health product.   Although the submission focuses on a single rare but serious inherited condition we report to customers, Bloom syndrome, it is an important step in our work with the FDA in the coming months.
We believe there is a regulatory path forward for direct-to-consumer genetic testing. Working in close collaboration with the FDA, we believe we have begun to establish the parameters for future submissions.
More importantly, for our customers, it marks a baseline on the accuracy and validity of the Bloom syndrome Carrier Test information we will report back to them. The submission includes robust validation data covering major components of our product such as the genotyping chip, software and saliva kit.

<h6>
What will the future submissions be based upon?</h6>

Future submissions will be based on the learnings we gained during the Bloom syndrome review process. Because this process was successful, we may be allowed to provide some reports without premarket review and to submit some future submissions through the standard 510(k) pathway.

<h6>
What is the timing for those submissions?</h6>

We don’t have any specific timing for additional report submissions.

Bloom syndrome

Landmark study breaks new ground in depression genetics research

The Natural History of a Genetic Variant Associated with Parkinson’s Disease

23andMe to Study Idiopathic Pulmonary Fibrosis

Better Treatment and Care Needed for People with Depression

A Note to Our Customers Regarding the FDA

What The FDA Decision Means For 23andMe Customers

Stay in the know.