Inside AJHG: A Chat with Natalie Telis

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

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month, we check in with Natalie Telis to discuss her paper, “Public Discussion Affects Question Asking at Academic Conferences.”

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Natalie Telis, PhD (courtesy Dr. Telis)

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

Dr. Telis: At one of the first conferences I went to, I realized after a day that I was the only woman who’d asked a question. And I remember thinking, “That’s weird, right?”

But then I second guessed it. I said, well, there were maybe 10 questions today. If 1 in 10 people in the audience are women, that participation is actually representative. What information would I need about this conference to discover whether this is representative participation?

Part of being a computational biologist is that you have a skill set that applies to computational problems — not just biology problems. So I started drawing on that skill set to try to learn more about this problem, and things kind of evolved from there!

AJHG: What about this paper most excites you? 

Dr. Telis: I am really excited about the opportunity to explicitly set goals, and then to use these techniques to measure whether our interventions get there. If our goal is to increase proportionate participation, it’s easy to say: “Well, having 50% of people in the room be women will help us get there.” But does that actually come to bear? We can test that question now (and learn that it doesn’t work that way). That can help us build powerful interventions to change culture and reshape access for underrepresented groups in science more broadly.

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

Dr. Telis: The human genetics community is still grappling with questions about representation and participation across the board, not only for women scientists but across intersectional categories. I do hope that raising these questions in a scientific way has contributed to more discussion around inclusion and representation. We definitely still need to ask, what do we want our community to look like, and how do we get there?

This work provides a precedent and hopefully a computational framework for testing that. And that’s a critical infrastructure we need to develop as we attempt to create change.

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

Dr. Telis: Any question is an opportunity to hone your scientific skills. Asking questions about questions didn’t seem like human genetics to me, but the computational techniques I’ve learned were ultimately what I used to solve that problem. Being a scientist is an opportunity to live and work on the edge of what is known — bring that curiosity in the face of uncertainty with you wherever you go!

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

Dr. Telis: I don’t really believe in New Year’s resolutions or setting a goalpost (especially because I always miss them), so instead this year I started trying to numerically track things I want myself to do more of. So I’m surprised and shocked and very proud to say I’ve read 27 books so far this year! Making space for all that fiction reading, not just paper reading, has made me more refreshed, inspired, and creative in my research.

Natalie Telis, PhD, is a Staff Scientist at AncestryDNA. She has been an ASHG member since 2014.

Advance Your Career at ASHG 2019: Here’s How

Posted By: Evelyn Mantegani, Public Education & Engagement Specialist, ASHG

We are excited to announce that ASHG’s first-ever Career Fair will be held at the 2019 Annual Meeting in Houston! It will be located in the Exhibit Hall on Wednesday, October 16 and Friday, October 18 from 1:15 pm – 3:15 pm. This event will connect innovative, energetic ASHG members looking for jobs with ASHG exhibitors who are actively hiring.

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The ASHG 2019 Career Fair will offer attendees a chance to meet face-to-face with hiring companies, grow their network, and learn about job opportunities.

This is a great opportunity for members of the global human genetics and genomics community to meet face-to-face with hiring companies. Meeting attendees of all levels of experience and backgrounds are welcome to attend at no additional cost.

For a reasonable fee, exhibiting companies can reserve a space at the Career Fair and will receive a discounted job post on the ASHG Career Center (ASHG’s year-round online job board), among other perks. Don’t miss this opportunity to fulfill your job-seeking and -hiring needs, while collaborating with existing and new scientific colleagues at ASHG 2019!

To increase your chances of job exposure, upload your resume/CV or job posting to the ASHG Career Center. This resource is available year-round and will be the main location for job postings and resumes at the ASHG meeting. The online Career Center and the Career Fair will be the only way to communicate job postings at ASHG 2019, as there will not be any physical job boards.

More questions about the Career Fair, ASHG Career Center, or other year-round career opportunities provided by ASHG? Email education@ashg.org. To sign up for a booth at the Career Fair, email Carrie Morin at cmorin@ashg.org.

 

 

Improving Access to Genetic Counselors under H.R. 3235, the “Access to Genetic Counselor Services Act” of 2019

Guest Post: Amy Sturm, MS, LGC, President, National Society of Genetic Counselors

Genetic and genomic innovation has made leaps and bounds to improve people’s health. As the technology has evolved, many delivery models have integrated genetic counselors into the healthcare team so that patients and their family members have access to them.

Indeed, the genetic counselor profession has grown rapidly and by year’s end, there will be well over 5,000 genetic counselors practicing across the country. This number should almost double in the next ten years to continue to meet the steady demand for our services. Most health plans reimburse genetic counselors and genetic counseling. In addition, delivery models are becoming even more diversified so that genetic counselors are available remotely to patients and other providers by phone and through telehealth.

Medicare Coverage and Reimbursement: A Challenge to Access

The one area that has held back access to genetic counselors is Medicare. Medicare currently covers and reimburses genetic counseling, as well as many genetic tests. However, Congress has not enacted legislation that would recognize genetic counselors as Medicare practitioners and because of this, Centers for Medicare and Medicaid Services (CMS) does not reimburse genetic counselors. CMS currently reimburses physicians and nurse practitioners for providing genetic counseling.

Lack of access has been shown to result in patient harm, such as incorrect interpretation of genetic test results, failure to identify individuals with genetic risk, and inaccurate risk assessments leading to inappropriate medical management. Another reason that CMS should recognize genetic counselors is because we are also a great resource in ensuring the correct tests are ordered, which may lower Medicare spending.

H.R.3235 Would Recognize Genetic Counselors as Practitioners

But there is good news! Representatives Loebsack (D-IA) and Kelly (R-PA) have introduced H.R. 3235, the “Access to Genetic Counselor Services Act,” which would have CMS recognize genetic counselors as practitioners. NSGC appreciates and thanks ASHG for supporting this important legislation.

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NSGC President Amy Sturm (right), with Congressman Brendan Boyle (D-PA). (courtesy NSGC)

The passage of H.R. 3235 would reverse current Medicare policies that limit physician referrals to genetic counselor services. Today unfortunately, because of arcane Medicare “incident to” rules, referrals to genetic counselors are limited under Medicare. Physicians and other providers who do not work alongside a genetic counselor, but who may want to refer to genetic counselors for the delivery of genetic services to their patients, would first need to refer their patient to a physician that actually works with a genetic counselor. This is extremely inefficient and is prohibitive. Medicare beneficiary access to genetic counselors is therefore very limited.

We are working hard with groups like ASHG to put pressure on Congress to enact this important legislation. Medicare needs to modernize in many ways, and this is a perfect example of how Congress can improve the delivery of genetic services. If you’d like to support this effort, please visit: https://www.nsgc.org/p/cm/ld/fid=612

Inspired by DNA Day: 2019 Essay Winner Visits a Lab

Posted By: Fuki Marie Hisama, MD, 2019 DNA Day Essay Contest Judge

This year’s DNA Day Essay Contest winner, high school junior Sophia Chen, wrote her essay on an ethical dilemma in human genetics: whether a father with Huntington’s disease should reveal his genetic diagnosis to his adult daughter.

My lab and colleagues at the University of Washington were all impressed with Sophia’s essay on the challenges of Huntington’s disease (HD), and we invited her and her science teacher, Dr. Devin Parry, to visit our lab to learn more and gain exposure to genetics research. We were thrilled to have them.

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L-R: Devin Parry, Sophia Chen, and Fuki Hisama (courtesy Dr. Hisama)

They attended a working clinical case conference, joined in a discussion of current topics in human genetics, toured several labs to see some of cutting-edge research going on here, and met many geneticists and genetic counselors, including two ASHG presidents: Mary-Claire King, PhD, 2012 President; and Peter Byers, MD, 2005 President. Tom Bird, MD, a leading neurogeneticist and expert on HD, presented Sophia with a signed copy of his book on Huntington disease entitled “Can You Help Me?”, published this year.

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Tom Bird presented Sophia with a copy of his recent book. (courtesy Dr. Hisama)

As one of the ASHG members who volunteer to judge the DNA Day essay contest, I was especially pleased to meet one of the winners of this year’s contest. Sophia has also participated in a NASA project on genes in space. The future of genetics is bright, because of young people like Sophia, and her teacher, who are passionate about science.

A longtime member of ASHG, Fuki Marie Hisama, MD, FACMG, FAAN, is Professor of Medicine (Division of Medical Genetics) and Adjunct Professor of Neurology at the University of Washington School of Medicine. 

Interested in encouraging public and student participation in genetics? Sign up for the Genetics Engagement & Education Network and add your name to the list of judges for next year’s DNA Day Essay Contest!

Using the ASHG Career Center: Tips for Job Seekers

Posted By: Evelyn Mantegani, Public Education & Engagement Specialist

Earlier this year, ASHG launched the Career Center. This online job board connects the innovative and energetic members of ASHG with the newest positions open in the human genetics and genomics community. At no cost, ASHG members can post their resume and search for their next position.

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Visit the ASHG Career Center at https://careers.ashg.org/

Here’s how to most effectively use this resource to find your next position.

Set up Job Alerts. Let the system find new jobs for you: set up your preferred job search criteria, including location, discipline, and level. You will then automatically receive a notification whenever a matching job is posted.

Create Your Searchable Portfolio. Increase your exposure to employers by uploading up to five career-related documents, such as work samples or certification letters.

Preview Your Job Applications. Before submitting your application, you can preview it as an employer will see it.

Check the Commute. Assess a potential commute right from the job detail screen. The Google Map feature will display a map with the distance between your home and the employer.

Save Potential Jobs. Save up to 100 jobs to a folder in your account so you come back to apply when you are ready.

Review Your References. For a discounted fee starting at $79.20 for members, experienced professionals will call your references to learn what they are telling prospective employers. All checks are done with complete discretion and confidentiality.

Have Your Resume Reviewed. The ASHG Career Center provides resume rewriting and critiques, starting at $29.95. This resource is available for resumes and cover letters from entry to executive level.

Find all ASHG Career Resources in One Place. The resources section compiles all career resources provided by ASHG. Browse this page for job application guidance, interviews with professionals across career sectors, and more.

Celebrating DNA Day and Genetics Research with High Schoolers

Posted By: D. Olga McDaniel, MD, PhD, ASHG member

For the second time in the past three years, we celebrated the DNA Day activities in association with the School of Health Related Professions (SHRP) Research Day, at the University of Mississippi Medical Center (UMMC). The goal was to present the ASHG to the students and the faculty of this medical center.

High school students presented research posters for judging and discussion containing illustrations, data, and study results, on topics including potential cancer therapy, population diversity, health disparities, and molecular modeling. The sound of students’ presentations was loud and added to the excitement. The students, a majority of whom are from Murrah High School of Jackson, Mississippi, were mentored by the UMMC faculty.

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Dr. McDaniel shares her poster with students (L-R) Matthew Hairston (grade 12), Kilando Chambers (grade 11), Evan Morrisey (11), Brandon Fisher (11), Matthew Araujo (12), Asiah Clay (11), Jessie James (11), LaMari Sutton (11), Sellena Dixon (12). (courtesy Dr. McDaniel).

The students are in a program called Base-Pair, supported in part by funding from the Howard Hughes Medical Institute. Base-Pair was initiated over 25 years ago to help advance science education in the public schools of Jackson, Mississippi.

The students gathered around my poster, entitled “The Genetics Engagement in Public Education and Population Health” to discuss the genetics curriculum in their classrooms. The poster was in part adapted from Dougherty, et al. CBE Life Sci. Educ. 2011, 10:318-327.

Just in time, I was able to include the names and photos of the 2019 DNA Day Essay Contest winners in the poster. The students were excited about the DNA Day Essay Contest. Some of them are thinking about participating next year. I presented a couple of quizzes just for fun and also to test their genetics understanding, one about the sickle cell gene and disorder, and another about genome editing. The students responded enthusiastically to the quiz. I promised to discuss the role of genetics in organ transplantation next year. Overall, the event was very educational.

A longtime member of ASHG, D. Olga McDaniel has been an Emeritus Member of ASHG since 2015 and has served as a DNA Day Essay Contest judge since 2014. Interested in more ways to engage with students about genetics and genomics? Join the Genetics Engagement & Education Network, sign up to judge future essay submissions, and explore additional ideas presented at our DNA Day Engagement webinar.

ASHG, AMP, and Partner Groups Oppose New Bill Allowing Gene Patenting

Posted by: Jil Staszewski, ASHG Policy & Advocacy Manager

Recently, there has been a re-emergence of gene patenting, an old issue that could impact the future of genetic research and medicine. On Wednesday, May 22, Senators Thom Tillis (R-NC) and Chris Coons (D-DE), along with Representatives Doug Collins (R-GA-9), Hank Johnson (D-GA-4), and Steve Stivers (R-OH-5) released text for a draft bill that seeks to reform Section 101 of the Patent Act. If passed, this legislation would effectively overturn the 2013 Association for Molecular Pathology (AMP) vs. Myriad Supreme Court decision, which ruled that our genomes are not eligible to be patented, as they occur in nature. Essentially, the bill would allow for the patenting of genes.

Background

To provide a bit of history on the issue, back in 2009, AMP, along with the American Civil Liberties Union (ACLU), filed a lawsuit against Myriad Genetics, challenging the validity of Myriad’s patents on the isolated BRCA1 and BRCA2 genes. AMP argued that these patents created extraordinary burdens for researchers, as they skyrocketed the cost of related testing and prevented further innovation. ASHG and several other medical associations submitted an amicus brief in support of AMP’s claims. In March 2010, the case was heard before the United States District Court of New York, where the judge ruled that products of nature could not be patented.

Upon successful appeal by Myriad, the case was eventually heard by the Supreme Court. In 2013, the Supreme Court ruled that isolated genes were still considered products of nature, and were not eligible to be patented.

ASHG’s Position

This AMP vs. Myriad ruling has played a large part in fostering an environment where researchers and clinicians are unencumbered by patent barriers.

Reacting to the news of the pending legislation, ASHG President-Elect, Anthony Wynshaw-Boris, MD, PhD, stated, “ASHG remains firm with our support of the 2013 Supreme Court ruling of AMP vs. Myriad that established that naturally occurring DNA is not patentable because it is a product of nature. It allows researchers to investigate the entire genome without fear of legal barriers and repercussions, helping to advance genetic discoveries and the development of new diagnostics and treatments for patients.”

ASHG has signed onto a joint, multi-society letter to the proposed bill’s sponsors, in opposition to the bill.

Next Steps

This week, a two-part hearing titled “The State of Patent Eligibility in America” was held by the Senate Judiciary Committee’s Subcommittee on Intellectual Property, where Senators Tillis and Coons serve as Chairman and Ranking Member, respectively. In his opening remarks, Senator Coons stated that the bill does not intend to overrule the 2013 Supreme Court ruling, but instead hopes to draw the line for how much human intervention is needed to determine patent eligibility.

Senator Tillis, Chairman, and Senator Coons, Ranking Member, welcome the participants of the “State of Patent Eligibility in America” hearing.”
Senator Tillis, Chairman, and Senator Coons, Ranking Member, welcome the participants of the “State of Patent Eligibility in America” hearing.

In his testimony, Charles Duan, Director of Technology and Innovation Policy at the R Street Institute, disagreed with Senator Coons’ claims, citing that the draft bill “provides that patent eligibility inheres in any ‘invention or discovery’ that arises ‘through human intervention.'”

Also amongst the panelists was Kate Ruane, Senior Legislative Counsel at the ACLU, who stated that the draft bill’s proposed revival of patent claims on genes would essentially violate the First Amendment, as it would deny scientists the ability to freely study and research genes. A third group of panelists will testify for a final hearing early next week.

ASHG will be following this impending legislation closely in the next coming weeks, and will alert ASHG members on any significant updates or grassroots advocacy efforts that may require your action and support. To stay up-to-date on the issue, be sure to subscribe to our monthly policy and advocacy email updates.