How Companies Can Safeguard Consumer Genetic Data

Guest Post By: Carson Martinez, Future of Privacy Forum

Consumers’ interest in accessing their genetic information has boomed, as companies bring increasingly affordable consumer genetic and personal genomic testing services to market. With more testing services available than ever before, it is estimated that more than 12 million consumers have signed up in recent years to explore the insights that can be drawn from their genes.

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Carson Martinez, Future of Privacy Forum (courtesy Ms. Martinez).

With many of these genetic testing services, individuals can share their genetic data with academic researchers or pharmaceutical researchers, and after reviewing an informed consent notice on potential risks, many choose to participate. By providing the research community the ability to analyze significantly larger and more diverse range of genetic data, individuals have helped researchers discover important breakthroughs in biomedical research, healthcare, and personalized medicine.

If consumers are to safely share this information, the sensitive details revealed by genetic data need to be safeguarded by companies. Genetic data is one of the most intimate types of information, as it may be used to identify predispositions and potential risk for future medical conditions, and may reveal information about and even implicate an individual’s family members, including future generations. And as we have seen in recent cases like the Golden State Killer, it also can be used as a powerful investigative tool by law enforcement.

Although laws such as the Genetic Information Nondiscrimination Act of 2008 protect against discriminatory uses of genetic data by employers and health insurers, consumers also need to be certain that companies will respect the privacy of their genetic data and give them strong controls over how it is used and shared.

With this in mind, I and other speakers will be discussing the privacy of personal genetic information at the ASHG 2018 Policy Luncheon, taking place Thursday, October 18.

As a think tank focused on helping chief privacy officers navigate privacy challenges and incorporate ethical data practices, the Future of Privacy Forum (FPF) believes that emerging technologies like consumer genetic tests are valuable, but that protecting individual privacy is core to the success of any industry. In this nascent industry, there is a need for strong guidelines.

To that end, FPF together with 23andMe, Ancestry, Helix and other leading consumer genetic testing companies released Privacy Best Practices for Consumer Genetic Testing Services this summer to develop a policy framework for the collection, use, and sharing of consumer genetic data.

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Privacy best practices for consumer genetic testing services (Courtesy Ms. Martinez).

Incorporating input from a wide range of stakeholders including the Federal Trade Commission, genetics experts, and privacy and consumer advocates, the document:

  • sets forward consumer rights to access and delete their genetic data;
  • requires informed consent for sharing genetic data for research;
  • bans the sharing of genetic data with third parties (such as employers, insurance companies, and educational institutions) without express consent;
  • requires valid legal process for disclosing genetic data to law enforcement; and
  • requires notice and consent for material changes to the policy and transfer of ownership, among others.

The Best Practices is supported by: Ancestry, 23andMe, Helix, MyHeritage, Habit, African Ancestry, FamilyTreeDNA, and Living DNA.

Carson Martinez is a Health Policy Fellow at the Future of Privacy Forum and leads FPF’s Health Privacy Project. To learn more about the Best Practices, attend the Policy Luncheon at the ASHG 2018 Annual Meeting in San Diego.

Welcome ASHG/NHGRI Genetics Education & Engagement Fellow Dyanna Christopher

By: Staff

We’re giving a big ASHG welcome to Dyanna Christopher, MPH!

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Dyanna Christopher, MPH, ASHG/NHGRI Genetics Education & Engagement Fellow (courtesy Mrs. Christopher)

Dyanna started the ASHG/NHGRI Genetics Education & Engagement Fellowship in August. We sat down and discussed her passion for genetics education and engagement, and what led her to this fellowship. ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor this fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.

ASHG: Why did you apply for the ASHG/NHGRI Genetics Education & Engagement Fellowship?

Dyanna: I’m interested in opportunities that aim to address populations without a background in genetics. These publics can range from medical health professionals who never studied genetics to members of lower-income and minority communities who don’t have enough health literacy to make important health care decisions that can be determined by their genetic predispositions. Because of the rotational structure of this fellowship, it was clear that this position would give me the opportunity to bridge those gaps in knowledge for health care professionals and the nonscientific community.

ASHG: How did your background lead you to education/engagement centered around genetics?

Dyanna: Believe it or not, my interest in genetics began in high school, where I was able to take my first genetics related classes. I got a BA from the University of Pittsburgh in English Writing with a pre-health track. During my undergrad, I completed an independent study project examining stigma as it relates to genetic diseases and the media. I found that most of the stigma and fear came from a lack of genetic education. I also shadowed scientists and healthcare professionals and got to see firsthand the empowerment that came when a person used their familial history and genetic test results to make medical decisions.

I went on to get my master’s from the University of Pittsburgh in Public Health Genetics. My thesis was focused on patient barriers to initial genetic risk assessment and follow up services. Some of the barriers we looked at were stigma, religion, and education. We found that the community we observed had many misconceptions about genetics and how it relates to health.  People were afraid to discuss their genetic predispositions. I would call to tell patients their screenings indicated they might want to consider making a follow up appointment to discuss their detailed family history to see if they qualified for additional genetic services, and even that information made patients nervous. It was clear that genetic services were being misunderstood. It’s important to communicate that even if you have a genetic predisposition to something like breast cancer, that is not a death sentence; it’s merely another factor to consider when making medical decisions.

I was also a Patient Navigator for the American Cancer Society. In this position I actively engaged with different communities by organizing events with the purpose of educating the audience about breast cancer and screening. I was additionally able to partner with other community stakeholders to gain a better understanding of what type of education events the communities would be receptive to.

ASHG: Is there a specific area of engagement or education that interests you most?

Dyanna: To be perfectly honest, everyone could benefit from better genetic education, so I have a very broad interest. But from my background and involvement in different communities, lower-income and minority populations have a special place in my heart because they have several factors affecting their access to genetic services and education. One of my goals is to address the health disparities seen in this community.

ASHG: What do you hope to accomplish in this position?

Dyanna: I hope to help close the knowledge gap about genetics for a variety of publics. I also hope I can highlight the importance of careers like genetic counseling, genetic research and genetic education and encourage others to pursue those positions so that there can be better avenues for utilization of genetic information and personalized medicine and care. I hope that medical professionals who don’t have genetics backgrounds will have better access to resources which will help them integrate genetics into their patient care.

ASHG: Any advice for fellow scientists interested in transitioning to engagement/education?

Dyanna: Don’t be afraid to apply for fellowships! I knew about the ASHG/NHGRI Genetics Education & Engagement Fellowship last year, but was concerned the application process would be too daunting for me to take on when I was finishing graduate school. I expected it to be as lengthy as my grad school applications, but it wasn’t, and I was disappointed I didn’t apply sooner.

If you’re still an undergrad, be open to taking classes outside of your major that will expose you to your other interests. If you didn’t take the classes during your undergrad, then look for opportunities in graduate school to indulge some of those interests. See if you can take courses at other schools/departments. Internships and volunteer opportunities are another great way to get exposure to a different field if you don’t have space in your schedule.  My graduate school offered community engagement and community-based research courses that were helpful. Reaching out to potential mentors can also help you figure out if education is right for you. Find people who are doing what you want to do and connect with them. Professionals in this field see the growing need for more geneticists, so we are very receptive to people interested in what we’re doing.

Overall, there’s no linear path into education and engagement. Volunteer, network, and take classes outside of your regular course of study to see if this could be the right fit for you!

Background on the ASHG/NHGRI Genetics Education & Engagement Fellowship

This unique fellowship provides several experiences: working with NHGRI’s Education and Community Involvement Branch; working with the education department at ASHG; and an optional third experience working with another organization involved in substantive science education or public engagement initiatives. Applications open in February.

Neighborhoods to Discover in San Diego

Posted by: Amanda Olsen, ASHG Meetings Assistant

There are so are many places to explore in San Diego, host city to the ASHG 2018 Annual Meeting this October, that we cannot cover them all. Learn more about exciting San Diego and all it has to offer.

Gaslamp Quarter—adjacent to the Convention Center; a short walk

Conveniently located across the street from the San Diego Convention Center, the Gaslamp Quarter is a lively downtown neighborhood that offers great food, premier entertainment, and rich history. The area features diverse cultural offerings including performance art, historic architecture, and many museums. To explore the district’s 150-year story, you can take a guided walking tour, or, if you’re feeling adventurous, a nighttime Ghosts of Gaslamp walk. Foodies will delight in the myriad exciting dining options around every corner. Often called the “historic heartbeat of San Diego,” this neighborhood is a must-see.

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Gaslamp Quarter, San Diego (credit: San Diego Convention Center) 

Where to Eat

  • Café 21: Farm-freshy, healthy food and a popular happy hour.
  • Barleymash: Extensive beer list and great pub fare.
  • La Puerta: The best spot for Mexican food in Gaslamp.
  • Werewolf: A place for good burgers, beer, and scrumptious weekend breakfast.

Coronado—3 miles from Convention Center; 15 minutes by taxi or ferry

The Coronado coastline offers beautiful sandy beaches and a beachfront boardwalk filled with oceanfront dining, unique shops, and breathtaking views. The area is best known for the Victorian Hotel de Coronado, a 19th century-era grand resort that has hosted some of the biggest names in U.S. history. Soak up the sun on the beach or soak in the culture at the Coronado Museum of History & Art. Beyond beach lounging, you can sail, paddle, surf, kayak, and even ride on a gondola, Venetian-style. Coronado is a relaxing 15-minute ferry ride from the Convention Center.

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Coronado, San Diego (credit: San Diego Convention Center) 

Where to Eat

  • Nado Gelato: Ranked by TripAdvisor as the #1 place to eat in Coronado, this spot offers authentic Italian gelato, a dessert to die for.
  • Poehe: A top-rated fine-dining restaurant offering fresh seafood and beautiful bay views.
  • Miguel’s Cocina: Where you’ll find the best Tex-Mex in Coronado.
  • Leroy’s Kitchen + Lounge: A local gem with an eclectic menu that satisfies every palate.
  • Clayton’s Coffee shop: A neighborhood institution with classic diner fare.

Old Town—5.5 miles; 15-minute taxi ride

History is waiting for you in the “birthplace of California:” Old Town San Diego. Experience the past at one of the dozens of historic sites, reflect in the Old Town San Diego State Historic Park, marvel at the 19th-century architecture, or attend any of the festivals and showcases that are planned for nearly every weekend. Round out your day with the fantastic authentic Mexican food that Old Town restaurants offer, reminiscent of California’s long history with its southern neighbor.

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Old Town San Diego (credit: San Diego Convention Center) 

Where to Eat

  • Fiesta de Reyes: Live music and affordable Mexican food with festive décor.
  • Sushi Tadokoro: Traditional sashimi, nagiri, and saki.
  • Casa Guadalajara: Large portions of authentic Mexican cuisine.
  • Café Coyote: In a town with countless Mexican dining options, Café Coyote sets itself apart with beautiful décor, fresh food, and great drink specials.

 

Balboa Park—2.7 miles; 7-minute taxi ride

Though not technically a neighborhood, Balboa Park’s 1,200 acres offer enough to rival many nearby California enclaves. Just three miles from the Convention Center, the park boasts more than 15 diverse gardens, the San Diego Air & Space Museum, and the famous San Diego Zoo. If that’s not enough to pique your interest (and how could it not be?!), Balboa Park also houses more than ten museums and over a dozen dining options. Performance art entertainment is also an option: go back in time and to the other side of the world by visiting The Old Globe Theater, modeled after Shakespeare’s playhouse in London. You can even get a round of golf in on the Park grounds. Whatever your interests, Balboa Park is an enticing destination.

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Balboa Park, California (credit: San Diego Convention Center) 

Where to Eat

  • The Prado: Full-service American eatery in the heart of the park.
  • Panama 66: Inner-park laid-back spot for brews and bites.
  • Hash House A Go Go: a short walk from Balboa Park, serving market-fresh brunch and dinner with their signature Bloody Marys
  • Evolution: A casual vegan and vegetarian restaurant adjacent to Balboa.

La Jolla—16 miles; 20-minute taxi ride

This beachside getaway is known as the “jewel” of San Diego, and with its beautiful shoreline, famous Torrey Pines golf course, and endless water sport options, one doesn’t have to wonder why. If you’re coming with family, lounge on La Jolla Shores, which features wide sandy beaches and a calm surf perfect for kid-friendly fun. If it’s wildlife you’re after, visit The Children’s Pool, a tiny cove that serves as a haven for California sea lions. Swimmers, kayakers, divers, and snorkelers can find paradise in La Jolla Cove, the perfect spot for sport. After a long hard day of beach adventure, picnic on the grassy expanse of oceanfront Scripps Park, or dine beachfront at one of the area’s many fine-dining establishments.

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La Jolla, California (credit: San Diego Convention Center) 

Where to Eat

  • George’s at the Cove: Contemporary American/seafood spot with expansive outdoor seating for a gorgeous ocean view.
  • The Taco Stand: local fast-food tacos with a great reputation.
  • Whisknladle: French, Spanish, and Italian inspired seasonal meals featuring farm-to-table ingredients
  • El Pescador Fish Market: Fresh fish at a counter-service market and restaurant.

Mission Bay—10 miles; 15- to 20- minute taxi ride

Mission Bay Aquatic Park is a 4,600-acre manmade water park, the largest of its kind in the world. Popular activities include surfing, jet-skiing, skateboarding, paddle boarding, kayaking, swimming, and biking. Learn how to sail at the Aquatic Center, bike along the beach boardwalks, ride roller coasters at Belmont Park, or even take a moonlight cruise around the bay. With such an exhaustive list of activities to choose from, anyone can find something to do here. Mission Bay is also home to world-famous the park Sea World San Diego.

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Mission Bay, San Diego (credit: San Diego Convention Center) 

Where to Eat

  • Luce Bar & Kitchen: Warehouse-chic bar serving pub grub & Sunday brunch.
  • Oceana Coastal Kitchen: Sushi bar, seafood, and a great view.
  • Phil’s BBQ: Hailed as the best barbecue in San Diego.
  • Coin-Op Game Room: Bites, cocktails, and craft brews in a spacious “barcade” with lots of games.

 

We look forward to seeing you in San Diego!

Welcome Genetics & Public Policy Fellow: Eve Granatosky

Posted by: Staff

We’re excited to welcome Eve Granatosky, PhD, to the ASHG family!

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Eve Granatosky, PhD, ASHG/NHGRI Genetics & Public Policy Fellow  (courtesy Dr. Granatosky)

Dr. Granatosky started the ASHG/NHGRI Genetics & Public Policy Fellowship in August, and we were able to sit down to discuss how she got into science policy and what most excites her about her new position. ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics and Public Policy Fellowship to give genetics professionals an opportunity to contribute to the policy-making process.

ASHG: Why did you apply for the ASHG/NHGRI Genetics & Public Policy Fellowship?

Eve: The ASHG/NHGRI Genetics & Public Policy Fellowship is one of the few fellowships that has a rotational structure, allowing me to sample a few different areas in science policy. I’m not sure exactly what type of policy I want to get into, or which stakeholders I want to work with, so this position will allow me to figure that out. I recommend it to anyone who’s interested in science policy, but uncertain about what their first steps into the field should be.

ASHG: How did your background lead you to science policy

Eve: I started my career at Stonehill College, with a BS in biochemistry, and received my PhD from the University of Notre Dame. While my research focused on the biosynthesis and therapeutic potential of complex molecules derived from soil bacteria, I also developed my love for science policy.

I went into graduate school not really knowing what I wanted to do, but while there, I got to hear a guest lecturer who was a biochemist by training but currently worked for the government on bioterrorism issues abroad. She was using her scientific degree outside of the lab and the purely medical realm. This was the first time I thought that I could do something different with my degree.

I also participated in a Capitol Hill Day, where I had the opportunity to advocate for scientific research to politicians. There, I met graduate students from other universities who were also interested in science policy. Their schools had groups on campus that allowed them to participate in science policy activities year-round, which led me to co-founding the Science Policy Initiative at Notre Dame (SPI@ND).

SPI@ND meets monthly to discuss policy issues, but also collaborates with other science policy groups, such as the National Science Policy Network, and runs outreach events on campus and in the community. Though SPI@ND now runs without me, I am proud to say that it is still a strong organization.

ASHG: Why science policy?  

Eve: While at Notre Dame, I was working in a lab that focused on a rare neurodegenerative condition that largely affected children. In this position, I mostly interacted with researchers, but also got to meet some of the patients and their families. It was really inspiring to see the people who our research directly affected. Science policy is an avenue for me to continue to have that direct impact. It creates paths that get the research to the people who need it.

In addition, during my lab work, it occurred to me that there were striking differences in perspectives when it came to how scientists and nonscientists viewed some issues, such as the use of genetically modified organisms. I want to assist in addressing these differences and produce work that will help all stakeholders benefit from the research being done.

ASHG: What policy issues interest you?

Eve: Making diagnostic and therapeutic tools for rare diseases more accessible to patients is a need in the field. We also have to make sure that the regulatory environment is favorable towards these developments, and that patients can more easily participate in clinical trials for new interventions.

Collaboration is a major part of these efforts. Without collaboration between organizations, both private and public, research ceases to advance and useful clinical trials won’t exist.

ASHG: Where do you think genetics is heading?

Eve: I’m really excited to see that the general public is becoming more interested in genetics because of services like direct-to-consumer genetic testing. I obviously love genetics and science, so this is a great time for us! I believe genetic testing will continue to become more accessible and useful, especially when it comes to developing precision medicine.

ASHG: Any final words for fellow scientists interested in science policy?

Eve: Twitter is a fantastic source to learn about science policy. The hashtags #scipol and #SciPolJobs are very active, and useful when it comes to finding opportunities to get involved. Science policy advocates are also engaged on Twitter and will live-tweet hearings or give their opinions on bills. Definitely check out those feeds to get a sense for what you might be interested in and what the field is looking for.

Background on the ASHG/NHGRI Genetics & Public Policy Fellowship:

The ASHG/NHGRI Genetics & Public Policy Fellowship is designed as a bridge for genetics professionals wishing to transition to a policy career. This unique fellowship provides three separate types of experiences: time spent in the National Institutes of Health within the Executive Branch; a staff position on Capitol Hill serving elected officials in the Legislative Branch; and experience working with ASHG in the non-profit science advocacy sector. Applications open annually in February.

Announcing: Your 2019 ASHG Board of Directors

Posted By: Staff

We are pleased to announce the results of this year’s American Society of Human Genetics Board of Directors elections. Thank you to all who voted! Members elected a new president-elect and three directors.

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For details on the new Board members’ background, experience, and research interests, see the Election Bios. The new Board members will assume office on January 1, 2019, and will serve three-year terms.

A warm welcome to our new leaders!

Navigating a Scientific Meeting Alone

Posted By: Ann Klinck, Communications & Marketing Assistant, ASHG; Amanda Olsen, Meetings Assistant, ASHG; and Emily Davenport, Member, ASHG Training & Development Committee

You’re reading part two of our three-part blog series on attending the ASHG Annual Meeting. If you want to check out part one about budgeting, click here.

The ASHG 2018 Annual Meeting is getting closer each day, and advance registration is only open until October 15.

This month, we’re going to talk about best practices for navigating a meeting or conference alone, and how to enjoy the process.

Know What to Expect

If you’ve never attended an ASHG Meeting before, it might help you to look at materials from previous meetings such as blogs, videos, or tweets. Visualizing your setting is likely to relax some nerves.

Planning your days helps you focus your attention on networking instead of worrying about where to go next. The printed Program-at-a-Glance includes a schedule overview, scientific session information, and maps of the convention center. Check the schedule online, and learn about the app in advance.

Emily Davenport, TDC member, shares that the ASHG meeting is an introvert-friendly environment: “I was nervous, but there were a lot of people at meal times willing to eat together, and you’d be surprised how often you can find a friend-of-a-friend. Science is a smaller community than we think!”

Do What Makes You Comfortable and Confident

Know your limits! If you feel like you’re overextending yourself, then go to a relaxing place to unwind for an hour. You’ll get more value out of the rest of the day if you take that time. Think about where that relaxing space is for you, whether it’s your hotel room, your car, a coffee shop around the corner, or the inspiration lounges. ASHG also has a Prayer & Meditation Room at the meeting each year.

Wear clothes that you feel confident in. When you feel confident, you’ll act more confident, and you’ll be ready to mingle. Think sensibly when it comes to footwear.

Talk about subject matter that interests you, and chances are you’ll find someone who has similar interests. Posters are organized by scientific topic, so if you’re presenting a poster, you’ll be surrounded by people with similar interests.

Realize You’re Not Alone

Many attendees don’t come with colleagues, so you’re not actually alone. You’re surrounded by friends you’ve yet to meet! Think about where people are likely to be looking for some conversation filler: in line for an event or food, or waiting for a session to start.

There are many social events built into the meeting, such as: the opening reception; ancillary, satellite, exhibitor events; and inspiration lounges. Use the online schedule filter to see ancillary events, or ask exhibitors directly if they will be hosting something. Trainees should check the trainee events page and watch the video below.

Use twitter to find fellow attendees by using the social media badges, the meeting hashtag #ASHG18, and the trainee hashtag #ASHGTrainee. People are often on Twitter looking for exercise partners and sightseeing buddies. You can also attend the Tweetup social event.

The most important thing to remember when attending alone? Everyone is in it together! If you’ve never attended a meeting or you’ve attended a dozen times, there are new people all around you just as interested in mingling as you are. Come meet our friendly staff at ASHG Central throughout the entire meeting. We can’t wait to see you there!

Inside AJHG: A Chat with Levi Teitz and David Page

Posted By: Sarah Ratzel, PhD, Science Editor, AJHG 

Each month, the editors of The American Journal of Human Genetics interview the author(s) of a recently published paper. This month, we check in with Levi Teitz and David Page to discuss their paper “Selection Has Countered High Mutability to Preserve the Ancestral Copy Number of Y Chromosome Amplicons in Diverse Human Lineages.”

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Levi Teitz, PhD, and David Page, MD (photo courtesy Dr. Page)

AJHG: What caused you to start working on this project? 

Levi: Our lab has a long history of studying the Y chromosome, but the ampliconic regions were always a bit of a mystery because of how difficult they are to study, due to their complex architecture and high sequence identity between copies. With the advent of high-throughput sequencing technologies and large, publicly available datasets, it seemed like a good time to revisit questions about amplicon variation and evolution with those new tools at our disposal.

David: The Y chromosome has been an enigma to geneticists for the last century, largely because it doesn’t play by the usual rules of being transmitted from both mother and father, and recombining with a homolog along its length, in meiosis. Despite being a sex chromosome, the Y chromosome is transmitted clonally – asexually – from father to son to son; it stands apart from all other nuclear chromosomes in this respect. This has led to all manner of unfounded insults regarding the Y chromosome’s character, medical relevance, and future prospects. My colleagues and I have spent decades defending the honor of the chromosome in the face of these insults.

AJHG: What about this paper most excites you? 

Levi: The new evolutionary questions it raises. The amplicons are extraordinarily divergent between species – so much so that it’s essentially impossible to reconstruct the steps that evolution took to get from the ancestral mammalian or primate amplicons to modern-day Y chromosomes. When we began this project, we expected that we could observe these evolutionary steps by looking within only humans. Instead, we found that the amplicon variation within human populations is an evolutionary dead end, and that the ancestral amplicon structure has been preserved for hundreds of thousands of years! This is a bit of a paradox: why is amplicon structure maintained in humans but so divergent between species? This is a hard problem, but solving it should provide incredible insight into amplicon evolution and function.

David: Learning something unanticipated about a subject you love is exciting. Massive palindromes and amplicons carrying spermatogenesis genes were known to dot the genomic landscape of the human Y chromosome, and they are frequently subject to deletion or rearrangement through non-allelic homologous recombination. The excitement for me here arises from both a computational advance and a biological insight. First, graduate student Levi Teitz, with guidance from Helen Skaletsky, mastered the computational challenge of robustly and accurately discerning the copy numbers of many different Y amplicons from whole-genome shotgun sequence data. Second, Levi applied these computational tools to the 1000 Genomes males, thereby characterizing Y amplicon copy number variation (CNV) around the globe. While the existence of such Y-amplicon CNV was unsurprising, the predominance of consistent patterns of Y-amplicon copy numbers around the globe (actually, across Y chromosome haplotypes) surprised me, and indicated that natural selection had optimized and consistently favored specific copy numbers for a host of Y amplicons. Natural selection, whose ability to maintain genes on the clonally transmitted Y had often been impugned, has evidently been effective at policing Y-amplicon copy numbers. Natural selection is alive and well on the human Y chromosome, even the parts where we might least expect it!

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Levi: Beyond improving our understanding of the Y chromosome, our work highlights the fact that the genome can change in unexpected ways. Much genomic research today focuses exclusively on the parts of the genome that are easiest to study: single-copy coding sequence. This paper demonstrates that not only does the rest of the genome have profound evolutionary and phenotypic effects, it also varies in ways that are exquisitely dependent on its repetitive structure. In fact, it would be impossible to understand the phenotypic and evolutionary stories without first understanding the underlying complex structure of these genomic regions. There are still parts of the human genome where complex structures are unresolved; who knows what we will discover when those parts are properly sequenced?

David: Genetically inclined students of human biology, medicine, and evolution tend to focus their efforts on the parts of the genome that are most readily analyzed – the civilized, single-copy parts that approach most closely our Mendelian expectations. But there is so much to be learned in the relatively understudied and untamed parts of the genome where palindromes, amplicons, and segmental duplications bend the rules, demanding special attention to technical and analytic matters but offering rich rewards to the curious and persistent.

AJHG: What advice do you have for trainees/young scientists?

Levi: I’m a trainee and a young scientist myself, so I don’t have much career experience to draw upon, but my advice would be to never forget the human factor when choosing what to work on and who to work with. If you are surrounded by good people and you enjoy working with them, your science will be better for it.

David: Work with people whom you like, respect, and admire, on questions that you personally find to be compelling. Nothing is more satisfying than finding value and meaning where others think not to look.

AJHG: And for fun, tell us something about your life outside of the lab.

Levi: I’m an amateur baker and have recently started accumulating kitchen gadgets, including a doughnut filling injector, a rotating cake stand, and a frying pan just for blintzes.

David: I love to explore the outdoors, and especially mountains and lakes, with family and friends, in all seasons. I would point out that some of our oldest and most acclaimed National Parks – Yellowstone and Yosemite – begin with the letter Y.

A longtime member of ASHG, David Page, MD, is Director of the Whitehead Institute, Professor of Biology at the Massachusetts Institute of Technology and Howard Hughes Medical Institute Investigator.