The FDA has approved the first direct-to-consumer DNA test for cancer risk. Offered by 23andMe, results include genetic health risk reports on BRCA1- and BRCA2-related genetic risk for breast, ovarian and prostate cancer.
DNA testing company 23andMe recently announced an important new addition to the personal health reports that come with itsHealth + Ancestry test(which retails for $199, compared to its Ancestry-only test): cancer risk.
DNA test for cancer risk
Effective immediately for existing and new testers, 23andMe “will report on three variants in the BRCA1 and BRCA2 genes associated with a significantly higher risk of breast and ovarian cancer in women, and breast cancer in men,” states a company press release.
Anne Wojcicki, 23andMe CEO and co-founder, calls the 23andMe reports “potentially life-saving information,” especially for those with Ashkenazi Jewish ancestors, who are at greatest risk for having one of the reported variants. According to the press release, about 1 in 40 people of Ashkenazi Jewish descent has one of these variants: “Women with one of these variants have a 45-85% chance of developing breast cancer by age 70.”
The company emphasizes that this information doesn’t replace regular cancer screenings or other recommended health care. Most cancers aren’t hereditary to begin with, and genetic screenings don’t capture all the possible genetic variants related to cancer risk.
Customers who purchase the23andMe Health + Ancestry testmust select whether they want to receive this health report as part of their results. This is consistent with all their genetic health risk reports, which include Celiac disease, Parkinson’s disease, late-onset Alzheimer’s and several others (click hereto read more about 23andMe’s health reports). Customers also receive an “education module” to help them fully understand what they can learn from this report and how to use the results.
The press release points out that currently, those recommended to be evaluated for genetic risk of cancer are primarily those with a known “personal and/or family history of certain cancers.” Butrecent medical findingsshow that 50% of families with BRCA1 or BRCA2 genetic mutations had no known family history. 23andMe reports similar results in their test population: “Of those BRCA carriers who gave family medical history, about half reported no history of cancer in first-degree relatives. 23andMe has also observed that many of its customers for whom Ashkenazi Jewish ancestry was detected did not self-report any Jewish ancestry.” The concern: lack of awareness of genetic risk could prevent critical screenings and monitoring.
Health and wellness reports are, for many genealogists, one more compelling reason to participate in DNA testing. Family history, after all, encompasses family health history, too!
More on DNA tests for health information
Your DNA Guide Diahan Southard keeps Genealogy Gems readers up-to-date with the broader conversation about DNA testing and your family history—including health reports. Keep reading and learn!
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A Vitagene Wellness Report is now available to Family Tree DNA customers. The $49 report just takes a week and promises personalized recommendations for your nutrition, exercise, and supplements based on your genetics and lifestyle. Here’s what Your DNA Guide Diahan Southard has to say about it.
Recently, Family Tree DNA offered its customers a new $49 add-on product: a wellness report that promises to “empower you to make more informed decisions about your nutrition, exercise, and supplementation.” The report comes via a partnership with Vitagene, a nutrigenomics company.
How does it work? When you order the report, Family Tree DNA shares the results of your Family Finder test with Vitagene and gives you a lifestyle questionnaire. According to the site, “this information, along with your DNA raw data results, will be analyzed using the latest research available in the areas of nutrition, exercise, and genomics. You can expect your results to be available on your dashboard within one week of purchase.”
At this point, the test is only available to those who have taken the Family Tree DNA Family Finder DNA test (we called to check with them specifically about those who transfer their DNA to Family Tree DNA, but the Wellness Report isn’t available to them, either). Those who qualify will see a Wellness Report upgrade option on their Family Tree DNA dashboard, as shown below:
What’s included in the Vitagene Wellness Report?
There are several components to the Family Tree DNA and Vitagene Wellness Report. The site describes them as follows:
Nutrition Report. “Personalized, actionable recommendations designed to help you reach your weight goals. Learn how your DNA affects traits such as obesity risk, emotional eating, weight regain after dieting, and more. Included Reports: Obesity Risk, Alcohol Metabolism, Cholesterol Levels, Triglyceride Levels, Lactose Sensitivity, Gluten Sensitivity, Emotional Eating, Weight Regain After Dieting, Fat Intake, Sodium Intake.”
Exercise Report. “Outlines the optimal physical activities for your body to start seeing better results, faster. Included Reports: Power and Endurance Exercise, Muscle Strength, Muscle Cramps, Exercise Behavior, Blood Pressure Response to Exercise, Weight Response to Exercise.”
Supplementation Report. “Reveals which deficiencies you are more inclined to suffer from and recommends a supplement regimen that will help keep you healthy and feeling 100%. Included Reports: Full Supplementation Regimen, Vitamin D Intake, Vitamin A Intake, Folate Intake, Vitamin B12 Intake, Iron Intake.”
And what about your privacy? According to Family Tree DNA’s Q&A, “Your data is 100% secure and protected by industry standard security practices. We will not share your information without your explicit consent.”
A Little More about the Vitagene Wellness Report (and Others Like It)
This is just one of many services that are cropping up or will crop up in the future to offer additional interpretations of our DNA test results. (23andMe was the first major company in the genealogy space to offer these–click here to read about their health reports, and click here and here to read about the company’s long road to FDA approval.)
Essentially, each DNA test you do for family history looks at a certain number of your SNPs, or little pieces of DNA (not your entire genome, which is costly and isn’t necessary for genetic genealogy purposes). A nutrigenomic profile compares your SNPs with SNPs known to be associated with various conditions or ailments. (These genetic markers have been identified by researchers, many in academia, and deposited in ClinVar, a large, publicly-accessible database that itself is part of an even larger genetic database, SNPedia.) In this case of Vitagene, they are likely mining ClinVar for specific places in your DNA that pertain to nutrition, and were also evaluated as part of the Family Finder test.
Of course, many factors affect your health, nutrition, exercise capacity, and other wellness indicators, not just your genes. The purpose of reports like these is to give you just one more piece of information to weigh personally or with your health care provider.
When considering whether to purchase a nutrigenomics report such as this, I’d look carefully at what’s promised in the report, as well as the company providing it and the cost. Vitagene does also sell vitamin supplements, so they have a clear motivation to tell you about what supplements to take. And, for your information, Vitagene also offers this $49 health report for AncestryDNA and 23andMe customers.
Keep Reading: My Picks for DNA Health Reports
Of course, if it is health advice you want, for only $5 you can turn to Promethease.com and receive a health report–based on any testing company’s autosomal DNA report–that includes some nutritional factors. Or, I will just tell you right now, for free, without even looking at your DNA: Exercise more and eat more green vegetables and less ice cream. There. I just saved you some money. You’re welcome.
I’ve blogged recently about Promethease and another inexpensive recommendation for DNA health reports. Click here to read it!
DNA health reports are becoming a more common option for those who test their DNA for family history. Should you order a DNA health report? Here are the ones Diahan Southard recommends most. Her top pick is inexpensive, available to all testers, and promises confidentiality for your genetic data.
DNA Health Reports May Have Saved a Life
At Rootstech 2017 I was sitting at my booth answering questions and talking with many of you about your experience with genetic genealogy. A woman came up to the booth and exclaimed, “You saved my son’s life!”
She went on to explain that she had come across my booth at a previous RootsTech and engaged me in a discussion about using this kind of genetic genealogy test to find out more about a person’s health. I explained that while the focus of these genetic genealogy companies is to further our ancestral research, the DNA that they test does contain some health information. In fact, 23andMe used to offer a full health report as part of their service, but the FDA decided they better regulate that sort of thing, and put the kibosh on it. I told her that while 23andMe is slowly edging back into that arena, you can find out some interesting personal health information today, using the results from any of your genetic genealogy testing company.
How to Get DNA Health Reports
1. Download your results. The first step is to download your raw DNA data from wherever you were tested. Just as Lisa Louise Cooke is always encouraging us to be the owners of our own family tree data, we should be the owners of our own genetic data, too. Save a copy of your raw data to your computer. You can find instructions here on my website.
2. Choose a DNA health report provider and upload your DNA. A growing number of companies offer these reports. Within the genealogy industry, 23andMe sells them and recently Family Tree DNA began offering them to existing customers (more on that coming soon).
But the DNA health report provider I recommend the most is Promethease.com. Their service is available to anyone with a DNA sample–you don’t need to test with any specific company. It’s easy and inexpensive: just $5. This report will tell you about various aspects of your health, including your predisposition to certain diseases and ailments, as well as your likely response or sensitivity to certain drugs. And the site promises confidentiality and impartiality, which are crucial in this age. The Privacy statement reassures users, “At no time is your DNA data shared – or sold – to any external party, period. We also do not sell any products like vitamins or supplements.”
Editor’s note: the following paragraph was updated on January 3, 2018: Promethease now offers the option to keep your raw DNA on the site and obtain updated health reports for free at any time. Click here to read more about these options. An email sent to Promethease customers on January 3, 2018 explains, “We added this infrastructure so we could use de-identified stored data to better assess the accuracy of the raw data produced by different companies, platforms and technologies. This will also allow us to provide the best, independent assessment of true vs. false data in future Promethease reports and add new features.” The email also reminded users that updated reports are valuable because the genetic database that fuels the reports “doubles almost every year, and Promethease’s interface is always improving to enable better searching, filtering and exporting options.”
Here’s a screenshot of part of a sample report:
If you would like to read more about Promethease, I suggest reading over the ISOGG wiki page, paying special attention to blog posts by legal and genetic genealogy experts. There is also a Facebook group to ask and answer questions about Promethease.
One more option for DNA health tests that I want to bring to your attention: Livewello. At Livewello you can combine your own personal exploration of your genetics with the tracking of your family’s health. Livewello offers resources about these ailments and predispositions, as well as support groups and chat rooms for you to explore and ask questions. It does have a fee of $19.95 to join, and some of the feature reports do require a monthly subscription fee.
3. Remember that DNA health reports are in their infancy. It is critical to remember that research hasn’t even begun to scratch the surface of the complex way our genetics interact with other factors in order to make our bodies work. So whatever you see on these kinds of reports, take it for what it is: just information, not some kind of crystal ball. If you see something concerning, you may want to consider talking to a genetic counselor.
This woman at my booth found out some interesting information on Promethease, then consulted the professionals already involved in her son’s care, ultimately changing the course of his treatment, and she believes, saved his life.
As more and more people get genetic testing completed, more and more tools are becoming available to track your personal health history. Whatever you decided to do, please remember that your raw data contains your own personal information that does identify you uniquely from anyone else on the planet. While you shouldn’t be afraid to try new tools and explore your personal genomics, it is very important to read the privacy information of each company carefully to be sure you know what you are consenting to when you are uploading your data. Most companies are fastidious about privacy, but many are also involved in research endeavors, including pharmaceuticals, so please be aware before you upload.
As the genealogists in the family, we are the keepers of many important truths and documents, and certainly, that includes our important health information.
Your DNA is Part of Your Story
Watch this free webinar with Your DNA Guide Diahan Southard to learn more about the role your DNA plays in your story. Get inspired, get informed–and get digging into your DNA! Click on the video below to watch it now.
There’s an easy, free way to analyze your family tree for patterns! Discover your ancestors’ average life expectancy, most common first names, how long they stayed married, and more. Share the results at your next family reunion, or use them to understand your family health history just a little bit better. Here’s how.
Whether you’re a paying subscriber to MyHeritage or are signed up as a free user, you have access to a little-known but fascinating tool on the site: Family Statistics.
You’ll find this tool under the Home tab:
Use this tool to explore various statistics and patterns in your family history, and to spot the “record-holders” on your tree. You don’t have to enter any information. Just click the topic on the left that you want to view (overview, places, ages, births, marriages, children, divorce). Easy-to-read infographics and summary charts will appear:
The Family Statistics tool will tell you:
the most common places of birth, death, and residence
most common surnames and male/female first names
average life expectancy for men and women
longest-lived and shortest-lived ancestors
oldest/youngest living relatives on tree
most common birth month, and how many people were born in each month
number of marriages, and the longest and shortest marriages
age at first marriage and who was the youngest/oldest when they married
the biggest age differences in a couple
total number of divorces, as well as the average age (and oldest/youngest) age at divorce, and the longest marriage ending in divorce
average number of children per family and people with the most children
the youngest/oldest age when having a child
the average and biggest/smallest age difference between oldest and youngest children
You can run these statistics for all your trees together or individually. Here are some of the different ways to use the data:
For your research: Watch for possible errors or omissions on your family tree. Do you really have a relative who lived to be 112 years old, or did someone neglect to enter a death date?
For fun: Watch for interesting things to share in a trivia game or quiz at your next family reunion. You might even consider creating a “Hall of Fame” for that great-grandfather who lived to be 103, or that great-aunt who had 14 children. (Remember, don’t embarrass anyone by sharing sensitive or confidential information about living relatives or the recently-deceased.)
For understanding: Do certain patterns tend to run in your family, such as having children at a younger or older age?
For family health history: Longevity–age at death–is a measure in Family Statistics that relates to your family health history. You can’t look at cause of death with this tool, but click here to read about a clever way to look at causes of death in your family.
If you have ever wondered if you or your loved ones are at higher risk for diseases such as Late-onset Alzheimer’s disease, read on to learn about big changes that are happening. Health history is just one of the ways in which genealogy research can benefit your family.
According to a recent FDA press release, “The U.S. Food and Drug Administration today allowed marketing of 23andMe Personal Genome Service Genetic Health Risk (GHR) tests for 10 diseases or conditions. These are the first direct-to-consumer (DTC) tests authorized by the FDA that provide information on an individual’s genetic predisposition to certain medical diseases or conditions, which may help to make decisions about lifestyle choices or to inform discussions with a health care professional.”
The release goes on to say:
Consumers can now have direct access to certain genetic risk information,” said Jeffrey Shuren, M.D., director of the FDA’s Center for Devices and Radiological Health. “But it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”
The GHR tests are intended to provide genetic risk information to consumers, but the tests cannot determine a person’s overall risk of developing a disease or condition. In addition to the presence of certain genetic variants, there are many factors that contribute to the development of a health condition, including environmental and lifestyle factors.
The 23andMe GHR tests work by isolating DNA from a saliva sample, which is then tested for more than 500,000 genetic variants. The presence or absence of some of these variants is associated with an increased risk for developing any one of the following 10 diseases or conditions:
You can read the complete article called FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditionshere.
FDA and 23andMe – Comments from Your DNA Guide
I look to Your DNA Guide, Diahan Southard for all things genetic genealogy, and here’s what she had to say about the recent news:
23andMe is certainly the outlier among our genetic genealogy companies. It is different because its purpose is not necessarily to help you find your ancestors or determine your ethnic composition, though it can do both, but their goal is to empower your personal health.
In November of 2013 the FDA ordered 23andMe to retract all health reporting from their website in order to better regulate the dissemination of health related information to consumers. 23andMe has slowly crawled back toward that same reporting structure, all the while jumping through the compliant hoops that the FDA has set up.
Now this week they have had a major step forward as they have been able to release the risk assessment for 10 major diseases including Parkinson’s and celiac. This is the first such test available direct to consumers, without first going to your doctor.
This is likely the first of many such developments as 23andMe works to make our own health more accessible via our genetics. If you do pursue this kind of evaluation, it is important to keep in mind the words of Jeffrey Shuren, M.D., director of the FDA’s Center for Devices and Radiological Health, “…genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”
Learn More About 23andMe
As with all genetic testing, it’s your decision in the end, so be as informed as you can. Diahan’s quick reference guide Understanding 23andMe (a Companion Guide to Autosomal DNA for the Genealogist) will help you tap into the company’s services from a genealogical perspective. Over 1 million people have had their DNA evaluated by 23andMe. This website has powerful family history tools and this guide will answer the most pressing questions like:
How can I control how much information is being shared with others?
How can I enter my genealogical information?
How do I know when I have a good match?
Is the YDNA and mtDNA information they give the same as what I see at other places?
What is the best way to use the ethnicity results presented?
Exploring our family health history is just another reason to look forward to the future of DNA testing. As science advances and we find out more regarding the specific genetic code responsible for various nefarious outcomes in our health, we learn there is more in play than just our genetics.
I recently read an article in the Wall Street Journal about a family who has been plagued with sudden deaths, ten in recent generations. Without warning, their hearts were stopping and no one knew why. That is until Daniel Wiggins died suddenly at the age of 29 and his family sought out a molecular autopsy. Becoming more accessible to researchers as the cost of running these tests drop, molecular autopsies allow a scientific team to analyze the DNA of the deceased, looking for genetic clues to the cause of death. In this case, the genetic sleuthing was able to turn up the perpetrator: a mutation that alters the electrical signals in the heart, causing it to stop. [Read more about this here.]
While this case was clear-cut and the gene was acting seemingly alone without an accomplice, researchers of this disorder say it only happens in 20% of cases. Which means, this devious genetic criminal has other methods we still haven’t tracked.
But for Daniel’s family, they can pursue genetic testing to determine if this specific culprit is lurking in their own genes. If found, they can take precautionary measures, like having a defibrillator installed.
Doing Our Part
Similarly, a family from Pennsylvania used their family reunion as a format for gathering family history and genetic information in order to arm its members with an action plan against a plague of cancer that is sweeping through their family. [See an article on this family here.]
Several members of the Shaffer-Peterson family have discovered a genetic test can alert them to possible pancreatic or skin cancer. Again, a gene affecting a very small number of melanoma patients was identified as the perpetrator of the Shaffer-Peterson family and has been given a 67% crime rate. This means that the chance of developing cancer if you have this particular gene is elevated by 67%.
Thankfully, melanoma is a particularly curable kind of cancer when caught early. This family has done their part in informing the family as a whole. And, they now have a sort of insurance plan that may protect the lives of their loved ones.
For both the Shaffer-Petersons and the family of Daniel Wiggins, genetic tests produce actionable results to those testing positive. There is something they can do to positively impact their health once they are aware of the presence or absence of these genes in themselves.
Environment or DNA?
Not all diseases or conditions can be attributed to our DNA. This past fall, after talking with my mother about kids and schedules, she added almost in passing, “Oh, by the way, they found another spot on my back, I am going to have it removed next week.” This is the third melanoma spot she has had removed in the past 5 years.
While my mom’s melanoma is less likely to be the result of a genetic abnormality and more likely linked to spending hours lifeguarding at the local pool, the fact she had melanoma was the sole reason I went to the dermatologist. My spot wasn’t cancer. I was just getting older. But, I am glad I went and I feel like knowing my health history has made me more aware of the measures I can take to improve it.
Tracking Your Family Health History
Diahan offers Genealogy Gems fans a discount on access to her series of videos on understanding DNA testing for genealogy. Click here to learn more.
For most people, molecular autopsies and DNA health tests are not easily available. Not yet. For those that are, there are hundreds of questions surrounding the kinds of genetic tests and the implications for both health and legal issues.
One thing is certain. In these cases, the common thread is family history. We need to know not only the dates and places of our ancestors lives and deaths, but also the stories behind them. Whenever possible, we need to track our health history, so we can identify any trends that our DNA might be trying to tell us.
If you want to start tracking your own health history there are plenty of free and subscription online tools to get you started. In particular, TapGenes was the winner of the 2016 Innovator Showdown at RootsTech. This online and app tool is designed specifically for your family health management.
You can also create your own alternate family tree. In this unique way, you can visually look at age-at-death, diseases, or other factors pertaining to your health. Read our article titled, “How and Why to Create an Alternate Family Tree.”
Gedmatch: A Next Step for Your Autosomal DNA Test Gedmatch is a third‐party tool for use by genetic genealogists seeking to advance their knowledge of their autosomal DNA test. This guide will navigate through the myriad of options and point out only the best tools for your genetic genealogy research.
Organzing Your DNA Matches With over 2.5 million people in the possession of a DNA test, and most with match lists in the thousands, many are wondering how to keep track of all this data and apply it to their family history. This guide provides the foundation for managing DNA matches and correspondence, and for working with forms, spreadsheets, and 3rd party tools.
Next Steps: Working With Your Autosomal DNA Matches This guide outlines what to do next to maximize the power of DNA testing in genealogy. With this guide in hand, genealogists will be prepared to take their DNA testing experience to the next level and make new discoveries about their ancestors and heritage.