Happy Grandparents Day (with some interesting DNA facts thrown in)!

Each of us has two grandmothers and two grandfathers, genetically speaking.  

I'm a lucky lady to have two ready-to-greet me and serve me chicken and noodles and ruffle my hair whenever I head back to Indiana for a visit. Happy Grandparents Day to them today! 

My Grandma Mary and Grandpa Leland, now great-grandparents to an energetic brood of 17 kids, have been married since 1948. No one on Earth can make chicken and noodles like my grandma, and no one can solve a mechanical engineering challenge better than my "Mr. Fix-It" grandpa.  

They have passed down more to me than just DNA; they have also passed down their years of wisdom. 

My grandmother's marital advice at the time of my wedding was short and sweet: "Hang in there!"

That seems like sage advice but seems to have worked out pretty well for her so far! Wisdom imparted to me by my grandpa included learning how a toilet flapper works and how to change the brake pads on a car. 

The genetics textbooks I read many moons ago told me I should have gotten 25% of my DNA from Grandma Mary and from each of my other three grandparents as well. At the next generation up, that means I should have received 12.5% DNA from each of the eight people I know as my great-grandparents. For each "great" you add, the amount of inherited DNA from a grandparent is cut in half.

Modern advances in genetics (and multiple generations of families deciding to undergo consumer DNA testing) have allowed us further insight than biology textbooks alone. Some astute collectors of data in the genetic genealogy community have collated and compared information about the shared amounts of DNA between people with known relationships. These studies have allowed us to see just how close the textbook facts match reality.

Studies of shared DNA amounts between family have revealed surprises, one being that the amount of DNA we inherit from our grandparents falls into a wide range, instead of fitting tightly at 25%. 

Charts like that produced by the DNA Detectives and from Blaine Bettinger's Shared cM Project show us the range of DNA we share with a second-degree relative (a group that includes grandparents) may be more like 18-32%.

Second-degree relatives are a group that includes grandparents as well as grandchildren, half-sibs, aunts, uncles, nieces, and nephews.

We can give Mother Nature and the randomness of DNA inheritance thanks for that!   

If this topic interests you and you would like to read more, this fantastic post on The DNA Geek blog goes further into detail about the shared DNA between family members. 

Did you inherit more than just DNA from your grandparent? Did you have a grandparent who you may not have shared DNA with but who meant the world to you?

Leave a comment or story below about your loved one to celebrate Grandparents Day with me today!

- Brianne

8 Key Points about Raw Data Files

If you are going to download a raw data file from an at-home DNA test like 23andMe or AncestryDNA, here are eight key points to be aware of:

•       The responsibility for the security and privacy of the data is in your hands once you     download the file

•       Raw data have not been validated (thus files can, and often do, contain errors)

•       Raw data generated by one company will typically differ from the next

•       Raw data generally include markers from only a small fraction of the entire genome

•       There are consistent issues recognized for certain markers in raw data files (i.e. false positives, also called miscalls)

•       There are additional problematic markers currently unknown, uncomfirmed, and/or unreported

•       A raw data file without a separate tool to analyze it is generally not useful

•       A finding in the raw data can be a “hint” in the right direction but is never the final answer

 

One of my areas of specialty work through Watershed DNA is helping people with their raw data.

Raw data can be very useful for many purposes, but there are limitations. This doesn't mean using raw data is of no benefit. Rather, it's better to know there are both benefits and limitations, and be aware of them as you move forward.

I’ve taken my own raw data to many different third-party tools, some for genealogical purposes (investigating how my DNA matches other people's, for example) and some for health (figuring out if any well-established health risk markers could be found). My "insider’s" view has given me a better understanding of raw data generated by consumer genetics companies testing and how to make the best use of the data.

I have worked with a number of clients in the past interested in understanding how to “do more”. Some have wanted basic guidance in what direction to take with a raw data file, and some have wanted me to do more of the leg work. I’m happy to meet my clients where they are and help them on to the next steps.

Have a raw data file and interested in knowing what to do with it?

Reach out through my contact me button in the upper right corner. I’d be happy to work with you.  

-Brianne

An update on "All of Us" - Enrollment Centers have been announced

The National Institutes of Health's "All of Us" study is a project I provide updates about every so often. Initially named the Precision Medicine Initiative when launched, it is a project whose announcement by President Barack Obama received bi-partisan applause and support. And for obvious reasons.

Visit https://allofus.nih.gov to read more about the project.

Visit https://allofus.nih.gov to read more about the project.

Genes are not political. Chromosomes aren't Democratic or Republican or Independent. We all have DNA in the cells of our body, 99.9% of it almost entirely the same as every person we run into in our lives (and even those we don't). But any day, any of us could get sick. And some medicines or treatments may work on us that don't on others (and vice versa). 

Sometimes a single change in the DNA sequence can make all the difference.    

I'm not privy to insider knowledge on the progress of All of Us, I just keep my eyes peeled for updates and pay attention when they appear. I sense things aren't running entirely smoothly (see some Twitter snark below, posted a few weeks ago). But it is a big project with lots of players involved. And in spite of great challenges a big project like this faces, announcements of progress continue.

Screen Shot 2017-09-01 at 10.11.35 PM.png

The latest news to come out is that the first three enrollment centers have been named for the project. They are three sets of health care provider organizations (in other words, hospital-research networks) based in Wisconsin, Alabama, and Florida.

Enrollment centers are the institutions that receive funding to coordinate the consent and enrollment for volunteers of a study. Sometimes, you'll have only one center for a study (here's a great site for searching for research studies, by the way). But for a project as big as All of Us is planned to be, multiple centers will be necessary.

Participants don't necessarily have to receive any care at these locations to participate. They are simply the enrollment hubs and coordinate the education and consent of participants. In other words, they're the wheels on the bus that make the project go all 'round the town.

From the start, it has been a stated and central goal of All of Us to enable discoveries that will be useful for all Americans. In the past, biomedical research in the U.S. has more often enrolled (and therefore given advantage to) Caucasian and male populations. There ought to be a way, in a project of one million people, for every group - minority and majority - to be represented. Anyone who has criticism for All of Us for trying to do this, well, I am just going to call you Scrooge. Someone needs to try, and they are doing it. Their choice of institutions for enrollment centers is first evidence All of Us is keeping their promise to make sure traditionally under-represented populations will not be under-represented in this project.  

I want to see this project succeed and hope it does. Everyone deserves to benefit.

If you're an early participant in All of Us (or know of someone who is), please reach out to me. I'd love to interview you for a post on my blog and ask what it was like to join, and why you did.   

 

Thoughts On Fighting Stigma, and the New Season of "Finding Your Roots" Starting This Fall

TheRoot.com is the website of Henry Louis Gates, Jr., a gentleman of multiple talents and acclaim, whom Wikipedia describes as an "American literary critic, teacher, historian, filmmaker and public intellectual". Getting asked to provide commentary for a blog post for The Root was a proud moment for me as a professional writer.

One of Dr. Gates' readers sent in a question to his website earlier this year, raising concerns about a romantic relationship between cousins. As a writer and a genetic counselor with specialization in genealogy/ancestry, I was happy to provide my professional insight.

The scientific perspective I took on this taboo topic was seen as a bit too compassionate and neutral for some readers. I received some flak but still stand by the response I posted on my blog shortly thereafter.

Apparently I am not the only one getting hate mail for writing publicly about controversial topics. The Internet has made a lot things great possible and easier (like in my own situation, being able to connect with other parents who have a child with Dyspraxia).

Unfortunately, the Internet has also made spreading hate and misinformation easier as well. 

Essentially, the message of my reactionary post was this: stigma is unhelpful and counter-productive. It often punishes those who completely innocent of any wrong-doing (children, for example), those who have no control over a life situation, or are at no fault. Stigma sucks. And haters be warned, just because you can use the Internet to share your thoughts does not mean you are right, or that the rest of us will listen to you.

Whether the original blog post and my response made any impact on those who do stigmatize others regarding the topic of "cousin couple" relationships, I have no idea. But it felt good to do my little part to fight back against those lurking in the corners of the Internet and casting judgment on people they do not know or understand. 

Thank you, readers, for tolerating my rant. Now, back to the reason I began writing this post in the first place! 

Dr. Gates and his team have created an amazing show Finding Your Roots which has received rave reviews over its multiple seasons. The fourth season of FYR is scheduled to air in fall 2017 on PBS (season premier October 3rd).

The show's premise? Genealogists and researchers track the family trees of a series of celebrities (writers, actors, politicians, musicians, and others). After the team has completed its research and compiled the guest's family history in a personalized "Book of Life", Dr. Gates sits down with his guest on camera (typically, two guests per episode). Together, Dr. Gates and his guest journey through the book, flipping the pages and learning the interesting stories uncovered about ancestors and forgotten parts of world history. DNA is a part of each show...but never "enough" for some people like myself!

Have you watched any episodes of Finding Your Roots in the past? Will you watch this season? Perhaps your favorite actor or politician or comedian will be featured this season. Check out the roster here

 

   

Support group on Facebook for those who have gotten family surprises

The TV commercials about family member reunification enabled by DNA testing show the bright and sunny side of surprise family discoveries. Most - but not all - people eventually find the silver lining in a DNA surprise. For some, it can be a long, confusing, or difficult journey to get there.

For the better part of a year, I have run a Facebook group for individuals who discover an unexpected close relative through DNA testing - and for those who discover that a genetic relationship that is supposed to exist between two people does not. 

FBsupportgroup

The group is "secret" on Facebook, meaning that members have to be individually approved to be added to the group, and only those who are a part of the group can see who else is in it. No one in your Facebook network will see if you belong. It is a safe place for sharing stories, resources, and camaraderie with others who have been in the same boat.

Know someone who could benefit from this support group, or perhaps from a private consultation about their test results? Send them to this post and encourage them to reach out to me through www.watersheddna.com/contact. To join the support group, private message (PM) me through Facebook.

-Brianne 

 

Moving down the strand to the next "Base Pair" with Amy and KT

Providing support, answers, and resources to consumers of DIY genetic testing was my main mission in founding Watershed DNA. A secondary goal was to help more people understand genetic counselors - who we are, what we do, and how our expertise can be valuable even in situations of genetic testing ordered from home.

I recently began a series of blog posts to help introduce genetic counselors to those who might not be too familiar. I'm calling the series "Base Pairs" (inspired by fellow genetic counselor and writer Deepti Babu who was highlighted in my first series post!).

This post features genetic counselors KT Curry and Amy Curry Sturm. The questions start off with a common one genetic counselors receive! 

Here are KT and Amy spending time together during the National Society of Genetic Counselor's annual conference in Seattle, WA (2016). Continuing education is an important professional task of genetic counselors. Although DNA doesn't change, our understanding of it does! Knowing the latest in research and clinical approaches to genetics is vital to genetic counselors.

Here are KT and Amy spending time together during the National Society of Genetic Counselor's annual conference in Seattle, WA (2016). Continuing education is an important professional task of genetic counselors. Although DNA doesn't change, our understanding of it does! Knowing the latest in research and clinical approaches to genetics is vital to genetic counselors.

How did you find out about the profession of genetic counseling? 

Amy: I first learned of genetic counseling during a development psychology course in undergrad.  We had to research a topic, there was one paragraph on genetic counseling, and I was intrigued!  After writing my paper, my professor, whom I adored, confided in me that he and his wife lost a baby with trisomy 18.  He told me how they had genetic counseling, and how important it was to their recovery process.  This left a huge impact on me - I was hooked!  I later shadowed Heather Hampel, a rock star genetic counselor at Ohio State.  That's when I really knew this career was for me, and the rest is history.

KT: While earning my degree in Psychology I signed up for an elective genetics course, on the notion that it wouldn’t be boring :) I found it endlessly interesting but had no idea at that time that I would or could turn this interest into a profession. Luckily I worked my way through college, as a professional dancer with the Rockettes, with plenty of time to decide what type of career I wanted to end up in after my first retirement.

Did you learn about genetic counseling from someone in your family? Did one of you influence the other?

Amy: I absolutely did NOT learn about genetic counseling from anyone in my family.  I'm from a very small rural Ohio town. My mom was a stay at home mom turned teacher, and my dad was a small business owner and recreational farmer.  No one in my family had ever heard of genetic counseling, or met a genetic counselor.

I love sharing that I am so passionate about genetic counseling and love my career so much that I was able to "convince" a New York Radio City Music Hall Rockette dancer to become a genetic counselor!  My fabulous sister-in-law, KT Curry.  KT is married to my little brother, Gus.  They met while doing theatre together in New Hampshire.  While dancing as a Rockette in Manhattan, she was also working on her undergrad degree, and became interested in genetic counseling!  I was thrilled!  I still recall sitting with her in their upper west side apartment reviewing graduate schools and applications.  I connected KT with colleagues of mine to shadow.  She just graduated from the University of Minnesota's program and I am so proud to not only get to call this amazing lady my sister-in-law, but also my genetic counseling colleague!  Being able to spend time together in Phoenix at the ACMG meeting was the best.  We've always been close and had a special connection, but now we're official base pairs!

KT: I met my husband, whose sister was a genetic counselor, and over the first few years I learned more and more about the genetic counseling profession. Amy encouraged me to seek out opportunities to get involved with different communities related to genetics. I started volunteering at Gigi’s Playhouse in Harlem, New York learning how to teach adaptive ballet and creative movement to kids with Down syndrome and their siblings. This experience inspired me to apply for a graduate program in genetic counseling! I was very lucky to have Amy as a resource during this period to guide me through shadowing other GCs and helping me connect with people completely outside of my current field.

How does having a common profession influence topics of conversation and discussions during family gatherings?
Amy: No joke - we were drawing pedigrees [family trees] on the chalkboard in my basement bar over the holidays this past December!  I also had a chance to share Thai food and genetics conversation with KT and her parents while in Phoenix for the American College of Medical Genetics and Genomics meeting this past spring.  We talked about everything from scaling genetic counseling to funny childhood stories, so it's a great mix!

KT: I love having a family member in the same field! Amy and I have been able to meet up at professional conferences together within the past year which was a blast.  During holidays we definitely drew out a pedigree on a board in her house to discuss a complex case. We received some eye rolls from the family :) For me, It’s also been nice to have someone to bounce ideas off of and act as a mentor. As a new practicing genetic counselor, it’s fun for me to see where I could be in 10 to 15 years!

When I asked Amy and KT what people comment about having two genetic counselors in one family, Amy's answer summed it up nicely: Most people I've told think it's pretty darn cool.  

Amy and KT enjoy some cocktails together at a holiday gathering. Genetic counselors can have pressure-filled jobs with a lot riding on accurate understanding and interpretation of genetic risk factors and the process of genetic testing. The importance of practicing self-care (like being able to let loose and relax sometimes!) is often stressed in training and throughout a rigorous clinical rotation schedule.   

Amy and KT enjoy some cocktails together at a holiday gathering. Genetic counselors can have pressure-filled jobs with a lot riding on accurate understanding and interpretation of genetic risk factors and the process of genetic testing. The importance of practicing self-care (like being able to let loose and relax sometimes!) is often stressed in training and throughout a rigorous clinical rotation schedule.   

Additional info about Amy and KT:

Amy Curry Sturm, MS, LGC, is a Professor and the Director of Cardiovascular Genomic Counseling at the Geisinger Genomic Medicine Institute.  She is the 2018 President-Elect of the National Society of Genetic Counselors.  Her interests include novel approaches to scale genetic counseling, the development of genetic counseling interventions to facilitate family communication, and methods to promote patient and provider activation in the setting of genomic medicine delivery, especially in the area of preventable types of genetic heart disease.  She lives in Columbus, Ohio with her husband Jeff and two kids, Jack and Stella.  If she wasn't a genetic counselor, she'd love to be an interior designer.

Kathryn (KT) Curry, MS is a genetic counselor in the pediatric genetics clinic at St. Luke’s Children’s Hospital. She is excited to be entering the field of genetic counseling and to see where it leads her. She has a special interest in ethics and children and adults with neurodevelopmental disabilities. She lives in Boise, ID with her husband and is a recent graduate of the University of Minnesota.

 

Newsreporter shares DNA journey on ABC27 news

Kendra Nichols is a news reporter for ABC27 news, based in Harrisburg, Pennsylvania.

She recently decided to go on a DNA journey, given the limited information she knew about her birth father who was not a part of her life growing up.

I sat down with Kendra the day she swabbed her cheek to talk about a DIY genetic test and to help her prepare for the journey.

Click here to see what Kendra learned about the process, and the risks to be aware of before you sign over your DNA. 

If the link above does not work, try pasting this URL into your browser: http://abc27.com/2017/07/13/what-to-know-about-dna-testing-kits/

Getting ready to spend time with some genetic genealogists

When I discovered an interest in genetic genealogy for my own personal/family purposes, I never imagined I would happen into a group as interesting and passionate as genetic genealogists.

Most people who become "genetic" genealogists start out as genealogists with no knowledge of DNA, genetic inheritance, or chromosomes. Over time, they gather knowledge about the science behind DNA and how the molecule links people together. Analyzing and comparing DNA between people (whether they are "family" that is close or distant) can fill in information and connect dots. It is only natural that consumer genomics and direct-to-consumer tests have made DNA testing commonplace in genealogical research in recent years.

There are a number of gatherings of genealogists each year -- too many to mention as genealogy has become the second most popular hobby in the United States, behind gardening.

For those with a special interest in the application of genetics to genealogy, there are a few special times when focused education is available in-person. The Salt Lake City-based SLIG course is one, and the Pittsburgh-centered GRIP course is another. Since I am East Coast-based, GRIP has been an easier location.

Some genealogy enthusiasts attend these courses to learn more about traditional genealogical research (i.e. non-DNA stuff). There are intro level courses and some for the advanced. These institutes have a little of something for everybody. 

I won't be attending GRIP for the full week this year as I did in 2016, but I am excitedly anticipating the one day I get to spend with CeCe Moore and the Advanced DNA course attendees. 

I look forward to that time together to present cases, explore questions, and learn as much (or more!) from attendees as they do from me.

Everything about the intersection of genetics, genealogy, family history, and health GRIPS my attention (ha! pun intended!). Each chance I get to improve the way I communicate about DNA is welcome.

Look forward to seeing some of you in Pittsburgh in a few weeks!

 

"We are more alike, my friends, than we are unalike"

My favorite Apple commercial of all time premiered during the Opening Ceremonies of the 2016 Rio Olympics. It portrays a montage of still images of humans, of various ages, skin colors, and cultures. The late writer and poet Maya Angelou offers a voice-over of select lines from her poem, Human Family (full version available here). Whether you are an Apple fan or not, the message is the point: Maya is and always will be a voice for humanity. At the end, she shares her final thoughts, so simply worded yet needed desperately in a world of 7 billion people, often hotly divided:

We are more alike, my friends, than we are unalike.
— Maya Angelou from "Human Family"

This poem and set of images calls to me, as I'm always seeking to find commonalities between people. It is what compelled me to work hard on a "matchmaking" registry of individuals with rare genetic variants while coordinating GenomeConnect at Geisinger Health Systems. It's what motivated my work to connect families in distress with support resources while working in a Maternal Fetal Medicine clinic in Indianapolis. It's what led to the creation of the graphic below, calling out similarities between those in my chosen profession (genetic counseling) and my chosen hobby-turned-secondary-profession (genetic genealogy).

GGGC2017

I updated the graphic recently, as the National Society of Genetic Counselors launched a new website making it easier for the public to learn what genetic counselors do and how we can help.

I hope you'll visit the rest of my website and then check out www.aboutgeneticcounselors.com.

Genetic genealogists are a small group, and genetic counselors even smaller.

But we all aim to be knowledgeable when it comes to understanding DNA and helpful to others who seek to incorporate a better understanding of DNA, and our place and our role on this lovely, precious planet. 

"Base Pair" series kicks off with Deepti and Sajid!

Learning how those in my profession of genetic counseling were drawn to the field interests me. There aren't too many of us -- around 4,000 genetic counselors practice in the United States, and a modest amount work outside of the US, often seen spelled with two Ls in counsellor.  

Each story of a GC's path to their professional niche is unique. 

TWO genetic counselors in one family piques my interest further (rare squared!). 

A fellow writer and genetic counselor Deepti Babu and her husband Sajid Merchant are one of the rare husband/wife couples in the field of genetic counseling. I decided to interview Deepti and Sajid and learn how there came to be two of them! Thank you for sharing your story, Deepti and Sajid. I enjoyed hearing your story, especially the part about the bed-and-breakfast host who took notes about you on her index card and later tried to be your "matchmaker". Sounds like your story was meant to be.


deeptiandsajidBasePairs

How did you get interested in counseling?

 

Sajid: During my fourth year of undergrad, my professor gave us a pamphlet on careers in genetics. It was a full two pages, but back then only had a tiny blurb on genetic counseling. It still caught my attention because it called for expertise in genetics and psychology, and my background was in genetics, psychology, and philosophy (ethics). However, I continued with my plans and started graduate studies doing research but felt like something was missing… my suspicions were confirmed after coming to the lab after a holiday long weekend. My lab colleagues were excitedly going on and on about something… we were all twentysomethings, so I figured they had a killer weekend of partying or something. Instead, I discovered they were thrilled about an experiment where a worm successfully flipped one way versus another! When I realized that I would never be excited about something like this, I decided to pursue what I loved. I was already volunteering at a few spots, including counseling, so I remembered that pamphlet and thought genetic counseling could work for me.

 

Deepti: Interesting, I guess we found out about genetic counseling at the same points in our lives! In my senior year of undergrad, a genetic counselor came to a Bio class to speak about her career. This was 1995 and I had absolutely no clue what she was talking about! I mentally filed it away under “interesting” and left it. I took a year off after graduating to decide whether to try for medical school a career in research (I’d already nixed culinary school, although I’d still like to go in my next life). I moved across the country to take a lab research assistant job in Tennessee, where I knew nobody. I learned a ton, including an incredible recipe for cornbread and that pursuing lab-based research was not for me. Somehow, my mind recalled that genetic counselor’s presentation and I contacted a local genetics clinic to shadow and learn more. It just went from there.

 

Did you learn about genetic counseling from someone in your family, or did you influence someone in your family to attend school for genetic counseling? How did that all come about?

 

Sajid: My family are largely actors, artists, musicians, and lawyers. The few “science people” or people in the medical field are a bit like the black sheep. So no one influenced me to apply to genetic counseling programs except my de facto second mother, a dear family friend, who pointed out that my background was ideal. I’m pretty sure a part of my father still thinks I should have gone into computers – the wave of the future – and encouraged me to take a Fortran programming course instead of philosophy during undergrad. However, as they have always been, my parents certainly were supportive once the decision was made!

 

Deepti: I think it was helpful that time passed between when I heard about genetic counseling and when I applied to training programs. There’s so much that you process when you’re not thinking about it! This time also allowed me to get solid exposure to the genetic counseling field before applying (because it’s not for everyone). No one in my family had a clue about genetic counseling when I was applying to programs – it was blank stares all around. My parents, both physicians, got behind it when I explained it to them (pretty remarkable, since much of it was taken on faith).

 

How does having a common profession influence topics of conversation and discussions during family gatherings?

 

Both: Probably like other couples in the same profession, we take shortcuts when talking about our work and share newsy updates with each other. We were fortunate to work together (in independent practices) in the same clinics for the first 15 years of our careers. It was awesome to have our most trusted colleague right there as a sounding board! Our sons (11 and 7) likely hear more about genetics and DNA than their peers – after all, they have been collecting CEUs all their lives by attending genetic counseling conferences, many even in utero! We figure that, at this point, they should have enough CEUs to recertify?

Sidenote by editor: Genetic counselors are expected to stay up-to-date and earn credits or CEUs for attending educational lectures or participating in other types of ongoing professional development. There is always something new to learn, making it a fast-moving and exciting profession. 

 

Have you received any surprising comments from having two genetic counselors in your family?

 

Both: Anyone that knows about the genetic counseling field’s demographics is usually intrigued, and those are often fellow genetic counselors. Most others think it’s interesting, but not super exciting – it’s like having two of any other profession in a family. It’s possible many people are trying to figure out what a genetic counselor even does in the first place, not how there are two of us in the family. We think it’s pretty cool, though, and Sarah Lawrence even wrote an alumni newsletter article about us, their first genetic counseling couple to graduate from the training program!

 

How did you meet?

 

Both: We were classmates in Sarah Lawrence College’s (SLC’s) genetic counseling training program and we’ve been a base pair ever since! Somehow, we both stayed at the same bed-and-breakfast when we interviewed at SLC. The host, a very (overly?) friendly and helpful woman, wrote down information about all her guests on index cards. Deepti stayed with her first; when Sajid stayed, the host got excited because another guest had recently stayed with her for the exact same reason. In fact, she enthusiastically pulled Deepti’s index card out – yep, with all her demographic details – and gave it to Sajid. Despite the fact that she’d just made a major confidentiality breach (we can just imagine the genetic counselors cringing as they read this), the host thought we’d get on well and wanted Sajid to reach out to Deepti. Bored while waiting to fly home from his interview, Sajid drafted a letter to Deepti but never sent it – his common sense finally kicked in and he realized it would be creepy. But, as fate would have it, we met at school and immediately hit it off – in fact, our classmates took bets on how long it’d take for us to start dating. For the record, Sajid was the only man in a class of 22 – people joke that he joined the field to meet women, but he got his Master’s and met his future wife in the program… not bad, eh?

 

More about Sajid and Deepti: 

 

Sajid Merchant, MS, CGC is the Lead Genetic Counsellor for the Edmonton Medical Genetics Clinic and Assistant Clinical Professor in the Department of Medicine and Dentistry at the University of Alberta, as well as a past President of the Canadian Association of Genetic Counsellors. Sajid earned his Master's in Human Genetics/Genetic Counseling from Sarah Lawrence College in 1999. He is particularly interested in the delivery of medical genetic services, the ethics of genetic counseling and testing, inherited blood disorders, and enjoying good beer and chocolate (both dark, of course).

 

Deepti Babu, MS, CGC, is the Vice President of Communications and Patient Advocacy at ThinkGenetic, Inc. and incoming Director-at-Large with the National Society of Genetic Counselors. She earned her Master's in Human Genetics/Genetic Counseling from Sarah Lawrence College in 1999. Her 15 years of working with families with genetic conditions infuse her writing, editing, and communications work and numerous volunteer projects. She is also often poring over cookbooks, being grilled by her sons on superhero factoids, or writing about her family’s foodie gene on her blog.

Do you know of a genetic counselor "Base Pair"? Encourage them to contact me through my website, and perhaps you'll see your friends or colleagues highlighted in a future post!

Debuting this week! YouTube videos to encourage sharing of genetic diagnosis of LHON in a family

Leber's Hereditary Optic Neuropathy is a disease that causes sudden vision loss in young adults. It's a highly disruptive condition which affects all aspects of living for someone who once had but  suddenly lost the vision that once provided independence, allowing them to drive, read, or decipher the faces of loved ones.

Many adults with LHON regain their independence by adapting to life with blurry central vision with the support of family, friends, and resources. Connecting with and learning from others affected by the condition has been key for many. 

LHON has a genetic cause based in the mitochondrial DNA that can be identified in most people with symptoms. Once a genetic diagnosis is made in a family, other members can be tested to find out risk. Early diagnosis means clinical trial enrollment may be possible, and for those to become affected in the future, increased treatment options are expected.

I've been working with Lissa Poincenot of the LHON Project for the better part of a year to try to help those with LHON communicate about the condition to other family members who may be at risk but not yet know. The result was two videos (posted publicly on YouTube; linked below) which I present to the audience at the annual LHON conference on June 30th. This year's conference takes place in Alexandria, Virginia. Shout out to Global Genes who provided support with grant funding to UMDF and LHON Project!

I'm hopeful for a positive response, and for feedback that will make other projects like this possible in the future. It's amazing to see genealogy and medical genetics coming together this way, and I feel so lucky to do what I do and be a part of projects helping other people, some of whom I'll never know or meet. 

Curious about understanding more about LHON? The videos YouTube videos are short, and you'll learn more about the condition. The LHON website and the LHON Facebook group are great resources as well.

Link to video for individuals with LHON

Link to video for reaching close and distant family

 

 

 

 

"All of Us" is starting

I wrote about the "All of Us" study once before (here) and plan to continue with the updates.

In only one year since the announcement of its launch, the project has gone from an idea to having already registered Participant #1! Excellent work, those at the NIH and all of the partner centers. I know that was no easy task!

The project is in its "beta" phase, meaning the basic infrastructure is in place and a few people have been let in the door to see how the system is working. Tweaks will continue forever for any big project, but this is Major Tweaking Phase.

Interested in following this project? Learn more details here at the project's website and check back on the Watershed DNA blog.

 

 

 

Raw Data: What is it?

You know that phrase "No moss grows on a rolling stone"? I think the world of consumer genomics is best considered as the rolling stone that will never find an end.

Much has happened in the consumer genomics world in the past 8 months since I published a video on YouTube to explain "raw data" and its uses, benefits, and limitations.

It could use some updating, but the basic messages are unchanged: 

1) You can get more than you bargained for when you hunt through your raw data.

2) You might go through a period of confusion before you have a sense of clarity again.

3) You can contribute your information to research and help future generations.

4) No two people will have the same experiences or emotional reactions to downloading, uploading, and uncovering information from a raw data file.  

5) I am here as a resource.

Before you take your raw data out of your ancestry testing account, please consider stopping and watching this video: "DNA Raw Data: What is it?"

Reach out for a one-time consultation with me, before you make the download or after you've used a tool to sort through your raw data and have gotten back a report. I don't mind chasing a rolling stone with you! It makes for an interesting and enlightening journey, for sure.