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.

Recap: ASHG-AJHG Webinar on Polygenic Risk Scores

Posted By: Ann Klinck, Communications & Marketing Assistant, ASHG

With growing interest in polygenic risk scores (PRS) and questions arising about its clinical relevance, ASHG and The American Journal of Human Genetics (AJHG) hosted the webinar The Development and Application of Polygenic Risk Scores. The archived video is now available for viewing.

Bruce Korf, AJHG editor and webinar moderator, was joined by Eimear Kenny, PhD, Director of the Center for Genomic Health at the Icahn School of Medicine at Mount Sinai, and Sekar Kathiresan, MD, Director of the Center for Genomic Medicine at Massachusetts General Hospital, and Director of the Cardiovascular Disease Initiative at the Broad Institute.

Origins of Polygenic Risk Scores

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Eimear Kenny, PhD (provided by Dr. Kenny)

With much research leading to the growth of PRS, Dr. Kenny believes the research paper The Correlation between Relatives on the Supposition of Mendelian Inheritance (1918) from R.A. Fisher was a huge contributor to the modern-day field complex trait genetics. Fisher defined the term variance, introduced the analysis of variance to partition observed variation into underlying casual factors, and theorized that several genes could contribute to variation using mendelian segmentation. This work led to understanding the genetic architecture and the prediction of complex traits.

 

Dr. Kenny went into further detail on the background of PRS, which you can see in the archived webinar (skip to 4:53).

What is a PRS? 

A PRS is defined as “a genetic prediction of an individuals’ phenotype. It is calculated by summing across the products of a genome-wide association study (GWAS) effect sizes and number of trait-increasing alleles.” Dr. Kenny said that the ultimate goal of a PRS is to predict the phenotype in an out of sample individual who does not have a recorded phenotype.

So, Where Does GWAS Fit In?

Dr. Kenny emphasized that the explosion of GWAS was a tipping point for risk prediction and has expanded in both number of studies and size. GWASs provide evidence supporting Fisher’s theory that most heritable variation is due to thousands of genetic variants each with a tiny marginal effect.

In other words, the genetic architecture of complex traits is almost always highly polygenic. Essentially, the expansion of PRS and GWAS go hand-in-hand.

Where is PRS Being Seen in the Field?

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Sekar Kathiresan, MD (courtesy Dr. Kathiresan)

PRS are influencing a variety of subject areas including epidemiology, statistics, public health, social science, and medicine. Dr. Kathiresan shared the real-world case of a 42-year-old male patient, who suffered a heart attack after being told six months prior that he had only a 1.7% chance of having a heart attack within the next ten years. In this case, other methods of predicting heart attack risk like cholesterol, triglycerides, or blood pressure were not helpful preventatives. As the current heart attack risk prediction model is largely driven by age, heart attack in people under 55 is difficult to predict.

“For early-onset disease, stratifying individuals based on inborn DNA variation is an important option, being as most diseases have an inherited component,” Dr. Kathiresan noted. What this could lead to is earlier interventions outside of lifestyle changes, like the use of a statin medication.

Essentially, over the last 15 years, it’s been found that using a polygenic risk model can identify other at-risk individuals. Dr. Kathiresan believes that in the next five years, polygenic risk will start to be incorporated when calculating a patient’s heart attack risk.

To hear more about the work on heart attack risk and other common complex diseases, check out the full webinar (skip to 35:02).

Representing the Global Population

Though there are millions of GWAS participants, most databases driving the GWAS and PRS research are of European ancestry, while only one-seventh of the world’s population has European ancestry. PRS can be adjusted for ancestry, but if based on current data, scores may not be as accurate for non-European populations.

Dr. Kenny described increasing diversity amongst genetic study participants as a multi-pronged issue (skip to 1:00:12). There are many efforts to recruit diverse populations, not only in ancestry, but in community type and socioeconomic status. Still, there is a lot of work to be done. Dr. Kenny believes that increasing diversity in the scientific community as a whole will allow labs to think about participant diversity more clearly.

Dr. Kathiresan agrees and pointed out that participant diversity is important for not only common disease genetics, but also for rare disease genetics in terms of who has been sequenced and the ability to then interpret rare variation.

Conclusions

PRS is a fast-moving area of interest but is just one developing approach to genomics and health, and there are many others such as transcriptional risk scores, epigenetics, and copy-number variation.

“I am optimistic about our ability as a field to really tackle these questions, problems, and challenges,” said Dr. Kenny in conclusion. “There are reasonable solutions, and we can pursue them. I’m hopeful we as a scientific community engage a lot more with the public, clinicians, and other stakeholders that think about these similar questions.”

Next Webinar:

Exploring the Responsibility to Recontact

Inside AJHG: A Chat with Lluis Quintana-Murci

Posted By: Sara Cullinan, PhD, Deputy 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 Lluis Quintana-Murci (@quintanamurci) to discuss his paper “Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation.”

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Lluis Quintana-Murci (far right) with the members of his lab, including Martin Silvert and Maxime Rotival (courtesy Dr. Quintana-Murci)

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

Lluis: My laboratory is interested in the evolution of human populations and their long-standing relationship with infectious agents; half of the lab thus works on population genetics questions and the other half focuses more on population/systems immunology. In the context of this project, it all started back in 2016, when we found that Neanderthal introgression has affected innate immunity genes as a whole, and that some innate immunity genes (e.g., the TLR1/6/10 cluster) display extremely high levels of Neanderthal ancestry (Deschamps et al. Am J Hum Genet, 2016).

Later that year, we also found that Neanderthal introgression has been pervasive among regulatory variants (eQTLs), in particular those involved in responses to viral stimuli including influenza (Quach et al. Cell, 2016). The next natural question was then to explore how Neanderthal-introgressed variants in the genomes of non-Africans have affected more generally transcriptional and post-transcriptional regulation, focusing on promoters, enhances and miRNA-mediated regulation, in different tissues and cell types.

AJHG: What about this paper/project most excites you? 

Lluis: Several things. First, although Neanderthal introgression has had relatively little effect on miRNA-mediated regulation, a mechanism that in general tolerates little variation and is highly evolutionary constrained, a few Neanderthal variants in a few miRNAs can exert a massive impact on downstream transcriptional programs. In general, I am fascinated by the fine-tuned “smart” way miRNAs function.

Second, I am excited about our results of enhancers, in particular the enrichment in Neanderthal ancestry we find in enhancers that are active in T cells (yes, sorry, I have a biased interest in all immune-related processes). What is even more interesting is that the excess of Neanderthal ancestry we observe in T cell enhancers is not due to increased Neanderthal introgression. Instead, it results from a higher human-Neanderthal divergence at these elements. This may reflect past adaptation in the Neanderthal lineage for this type of enhancers.

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

Lluis: This work highlights once more the potential benefits of admixture between our ancestors and other human forms, such as Neanderthals or Denisovans. The latter were adapted to their environments, whereas our ancestors entering Europe or Asia were less adapted. In this context, acquiring advantageous variation through archaic admixture is a fascinating topic, with obvious consequences for the larger human genetics community. Indeed, such archaic admixture increasingly is being shown to affect molecular phenotypes such as gene expression or mechanisms of gene regulation (e.g., this study) and more generally, organismal phenotypes such as traits and diseases (e.g., skin pigmentation, sleeping patterns, allergies) in present-day human populations.

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

Lluis: Be open while doing research, be curious, be rigorous, exchange a lot with other trainees and PIs, read a lot, and MAINLY, have fun and be passionate! Meaning both in your working and non-working life. Enjoy the work, do not suffer from it! For me, this is rule number one. If you follow this rule, great findings will follow…and, yes, a bit of luck also helps.

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

Lluis: I like to garden (actually, I can spend hours gardening), to bike, and, increasingly, to run. These three things really empty my mind and recharge my batteries. Also, I do need to go at least once per year to Mallorca (where I was born). Having lived there until I was 20 gave me a handicap for life: my need for sun and sea (and I live in Paris…). There’s nothing that relaxes me more than getting into the turquoise Mediterranean water and swimming!

I also love art exhibitions, almost exclusively modern art, and pop if possible! I spent last summer in NYC on a mini-sabbatical at Rockefeller University, and I really enjoyed the exhibitions there!

I also like to read. I can compulsively read historical biographies. When I enjoy somebody’s life, I can read 30 books about them even if most of them say the same thing. A recent example is the life of Princess Marie Bonaparte – a psychoanalyst and close friend of Sigmund Freud, whom she helped escape from Nazi Germany. I also love reading about contemporary politics: one of my preferred topics is the so-called “Spanish transition,” the period starting 1975-1980 when Spain transitioned from being under Franco’s non-democratic regime to being the modern, open-minded country that is today. Obviously, I like books about evolution, but then, that is more work-related again…

Lluis Quintana-Murci, PhD, heads the Unit of Human Evolutionary Genetics in the Department of Genomes and Genetics at the Institute Pasteur. He is a first year member of ASHG.