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.

20190627_AmySturm_BrendanBoyle
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

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.

Why is a 2011 Budget Relevant to Science Funding Today?

Guest Post By: Mary Woolley, President and CEO, Research!America

Each year, Congress develops a federal budget, which establishes funding for each federal department and agency for the following fiscal year. This determines how much funding agencies like the NIH have to support scientific research through grants, as well as in their own labs.

Budget Caps Threaten Research Funding

A federal law, the 2011 Budget Control Act (BCA), placed stifling caps on spending that have threatened funding for the NIH and other agencies. These caps are blunt tools that batter crucial national priorities, compromising security, prosperity, and progress.

20190410-RA-raise-caps-ad-cropped
Research!America and partner organizations, including ASHG, are running ads urging Congress to #RaisetheCaps. (courtesy Research!America)

Why It’s Time to #RaisetheCaps

Because the caps established by the BCA are so low, Congress has raised them repeatedly to allow sufficient funding for federal agencies. Unfortunately, those “caps deals” were temporary. Unless Congress acts again, we’re looking at a cut of approximately $55 billion to non-defense discretionary spending in the next fiscal year, which guarantees trouble. If the cuts are distributed evenly or no budget deal is reached, then NIH and every other public health and science agency faces a cut of about 10%. In the case of NIH, that would mean a cut of as much as $4 billion.

Achieving another agreement to raise the budget caps is crucial, time-sensitive, and not by any means a sure thing.

You don’t need a laundry list of the negative consequences on science that these cuts would engender. Suffice it to say that promising research will be choked off, fewer new grants will be funded, and medical and other scientific progress will slow dramatically. All this during a time of unprecedented scientific opportunity, when other nations are already nipping at our heels and would surely attract more and more young scientists if the U.S. signaled lack of support. Starving research is not the solution to what ails us — literally or economically.

Your voices, your story, and your expertise are needed now. Tell your friends, colleagues, and Congressional representatives why medical progress, public health progress, and science itself are crucial, and why federal funding for these priorities is so important.

Research!America, supported by partner organizations including ASHG, has created resources for you to advocate for federal research funding. Additional resources and tools to urge your representatives to #RaisetheCaps are available on ASHG’s Advocacy Center.

 

Defining the Responsibility to Recontact Research Participants

Posted By: Staff

This week, ASHG and eight partner organizations issued a position statement outlining whether, and to what extent, there is a responsibility to recontact genetics and genomics research participants when new findings emerge that suggest their genetic information should be interpreted differently.

DTR-proof-screenshot
Today, ASHG and partner organizations issues a statement in AJHG addressing the responsibility to recontact research participants.

Variants of uncertain significance get reclassified at a relatively high rate – up to half of such variants have been reclassified in the past decade. One paper found that 12% of these reclassifications had the potential to alter clinical management.

We sat down with Yvonne Bombard, PhD; and Howard Levy, MD, PhD, lead authors on the statement, to get their take on the issue.

ASHG: Why did the Social Issues Committee tackle this topic?

Yvonne: Genetics and genomics researchers are at the forefront in collecting and analyzing data related to sequence variant interpretations, which is continuously evolving. This means that a variant’s clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis.

While clinical recommendations on the responsibility to recontact research participants with such reinterpretations have begun to emerge, the Social Issues Committee decided to tackle this topic because there is a lack of guidance on the responsibility for researchers. We were fortunate to have collaborative partners on our Workgroup from clinical, research, and laboratory settings across various countries and jurisdictions. The statement reflects their synergistic efforts and the care these members took to carefully craft a comprehensive set of recommendations.

Howard: Perhaps the most obvious but most important concept in this position statement is the recognition that recontacting individuals to keep them abreast of new knowledge is a desirable and laudable goal. The problem is that we live in a world of limited resources, and the cost of achieving this goal can be onerous.

As Yvonne points out, there is only limited guidance on recontact in the clinical arena, and none in the research arena. ASHG and our partner organizations are fortunate to count among our memberships expert clinicians, researchers, laboratorians, educators, counselors, social scientists, bioethicists, lawyers, and patient advocates from around the world. We are uniquely suited to address this topic with the broadest possible representation and perspective.

There is a long history of thinking about clinical care and research as independent, non-overlapping contexts. But in recent years we’ve been recognizing and grappling with the reality that the lines between the two are blurry and sometimes not well-defined. In genetics, many of us serve in both roles concurrently, which can create real or perceived conflicts of interest. It is incumbent on all of us to work as hard as we can to be aware of these potential conflicts and respond appropriately. Having principled and evidence-based guidelines upon which to rely is an invaluable resource in helping us to evaluate these situations and determine the right course of action.

ASHG: What are the key differences between the research and clinical contexts?

Howard: While the intent of biomedical research is ultimately to improve or maintain health and avoid, treat, or cure disease, the proximal goal is to generate knowledge that forms the foundation of that ultimate benefit to society. Direct benefit to individual research participants is wonderful when it occurs, but is not the primary purpose of the research. Conversely, clinical care puts the benefit of the patient front and center as the primary goal.

Thus, in the clinical context, recontact can be argued as furthering the goal of maintaining information and informed consent, so that individual benefits can be maximized and individual harms minimized. But in the research context, the ethical desirability of recontact is not as strong, because the main goal is generation of new knowledge, not individual benefit. In fact, recontact in the research context can be argued as ethically undesirable if the recontact consumes so much resource that the research itself can’t be completed. In addition, while there are mechanisms available to seek at least partial financial compensation for clinical recontact on a case-by-case basis, there is no such funding mechanism in the research context.

Yvonne: The workgroup carefully considered differences between the research and clinical contexts to determine a reasonable set of floor/ceiling recommendations, balancing these imperatives across research and laboratory settings. We also developed a decision tree, which walks a researcher through whether and how to implement these recommendations within their particular research context.

ASHG: What factors affect the strength of the responsibility to recontact?

Yvonne: The workgroup considered a variety of factors that would affect the strength of the responsibility to recontact, and recommended that this responsibility is stronger when:

  • The research is active, ongoing, has funding, and participant contact details are up-to-date
  • The informed consent process set an expectation of potential contact or recontact
  • There is high certainty about the new interpretation of the genetic variant
  • The reinterpretation would be relevant to the condition being investigated

If the interpretation of a given variant is related to the condition under study or reasonably expected to affect participants’ medical management, the Workgroup recommended that there is a strong responsibility for researchers to attempt to recontact participants to offer updated results. If the reinterpretation is not expected to affect medical management, recontact is advised rather than strongly recommended.

Conversely, the statement recommends that there is no responsibility for researchers to hunt or scan the genomic literature for changes in variant interpretation, and that any responsibility to recontact should be limited to the duration of research funding. Additional recommendations address the practicalities of informed consent, involvement of institutional review boards, timeliness and protocol of recontact, and structuring of future research studies.

Howard: Clinical utility to the participant is prioritized higher than personal utility or benefit to family members. And issues of practicality have to be considered, too. Some of these judgments may be subject to bias, and we therefore encourage consultation with and input from IRBs, ethics boards, and clinical consultants.

ASHG: How might advances in IT address practical challenges in fulfilling this responsibility?

Yvonne: Advances in IT will likely reduce the opportunity costs of recontact and open up new avenues of keeping patients and research participants informed. Most electronic medical record systems and many clinical laboratories now offer portals through which patients might see their data, interact with clinical, laboratory, and support staff, and access educational material. As our IT resources and our databases continue to evolve, it is plausible that much of the effort of recontact could become automated. When a variant is reclassified, an automated notification could be sent to all patients and research participants known to harbor that variant, alerting them of the revised interpretation and prompting them to log into the portal to view the new information and associated material.

Howard:  As the volume of identified and re-interpreted variants continues to increase, IT solutions will be critical to handling these immensely large numbers at scale, at much lower cost, and more rapidly than doing so manually.

IT solutions can also reduce the risk of biased or uneven approaches to attempting recontact. Humans may consciously or subconsciously vary their method of communicating information, and sometimes make mistakes in adhering to informed consent, research protocols, and other policies governing the recontact process. An automated, algorithmic approach is still subject to human bias and error in creating and implementing the rules that drive the process, and is obviously not as personal as direct human communication, but is by definition consistent from case to case.

ASHG: What infrastructure would be needed to maximize the impact of such IT advances?

Yvonne: This future vision depends upon well-developed and interoperable databases, including both the interpretations of the variants and the lists of who has each variant. Potentially difficult questions about identity and privacy will need to be answered. There are also significant concerns about the “digital divide” and economic disparities; increasing reliance on IT solutions has the potential to create disparities among people who are unable to or choose not to utilize such resources. There will always be situations that require more nuance and explanation than an automated algorithm can achieve. But there is hope that IT enhancements can significantly lower the costs and barriers to recontacting research participants when it is considered desirable to do so.

Howard: Perhaps more challenging than creating the infrastructure of standardized and interoperable databases will be establishing societal and cultural expectations surrounding privacy, security and sharing of the data, and developing the necessary IT tools to collect, maintain, revise, and respect individuals’ preferences regarding such data sharing. With all of that in place, patient-facing portals built into IT systems and yet-to-be-developed apps can deliver timely and relevant information to consumers who choose to receive it, and pair that information with additional education and support modules to help them make the most of that information.

Yvonne Bombard, PhD, is an Assistant Professor at the University of Toronto Institute of Health Policy, Management and Evaluation; Director of the St. Michael’s Hospital Genomics Health Services Research Program; and Scientist at the St. Michael’s Li Ka Shing Knowledge Institute. Howard P. Levy, MD, PhD, is an Associate Professor in the Division of General Internal Medicine & McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University. 

Pivoting Your Career Toward Science Policy and Advocacy

By: Staff

ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics & Public Policy Fellowship to give genetics professionals an opportunity to contribute to the policymaking process. If you’re interested in the development and implementation of genetics-related health and research policies at a national level, then this Fellowship may be right for you. Applications are open now through April 19, 2019.

Questions about what the position is like? Read on for real-world details from past Fellows about their experiences.

How is the position structured?

The Fellowship lasts for 16 months, during which time the Fellow rotates through three positions within the Policy and Program Analysis Branch of NHGRI, a congressional office of a member of Congress or a committee, and the Policy & Advocacy Department at ASHG. This allows Fellows to gain experience in different roles of national policymaking and decide which aspects of policy and work settings they are interested in pursuing as a career.

2016-17 Fellow Christa Wagner said, “The ASHG/NHGRI Fellowship has provided me with a diverse array of experiences, both in terms of topics covered and settings in which I worked on policy. The Fellowship provides an exceptional experience for those with a background in genetics to play a role in effective policymaking.”

Cari Young, 2015-16 Genetics & Public Policy Fellow, walks us through her experiences.

What kind of work will I do? 

While it depends on the needs of each organization at the time of arrival, 2017-18 Fellow Nikki Meadows gave us a look into her work during two of her rotations through several blog posts.

Nikki Meadows 2017-18 Policy Fellow
2017-18 Fellow Nikki Meadows discusses advocacy with members.

During her rotation with the Senate HELP Committee, Nikki organized a panel of genetics experts to answer questions from congressional staff working on health issues. This allowed her the opportunity to network with seasoned geneticists and help enhance the scientific knowledge of congressional staff. At ASHG, Nikki also provided updates to members on important policy issues such as the federal biomedical research budget  and genetic privacy. She additionally promoted the ASHG Advocacy Center and encouraged scientists to make use of these vital tools, both at the 2018 Annual Meeting and through online forums.

While these certainly weren’t all of Nikki’s duties, she explored several areas of work with a variety of audiences. Nikki said, “I had some amazing opportunities during the course of this Fellowship. I’ve gained so much from this program, both personally and professionally, that I am forever changed by it.”

Will this position help further my career? 

The rotational aspect of the position is a huge bonus to many applicants. 2015-16 Fellow Cari Young said, “This Fellowship provided a unique opportunity to take on varied roles within the science and health policy landscape, allowing me to experience the pros and cons of working in each setting and helping me to crystallize my thinking on where I might want to go next. It also made me a more marketable applicant for policy positions beyond the Fellowship.” As Fellows gain experience in different areas of public policy in just 16 months, it is a vital starting point that lays a solid base.

Being a Fellow additionally opens a new professional network to benefit from. 2012-13 Fellow Laura Koontz said, “Not only has the experience been invaluable, the network of Fellows I’ve joined as an alumna are among the best policy professionals in D.C. The Fellowship has also allowed me to fully realize my commitment to bettering the lives and treatment of people with cancer – the reason I got into scientific research in the first place!”

What kind of jobs might I get afterwards?

Check out our policy fellowship page to see where all our past Fellows are working now! Our Fellows have gone on to positions at the National Institutes of Health, the U.S. Food and Drug Administration, the White House, and a number of other organizations focused on science and health.

Applications are open now through April 19, 2019. Apply today!

Voice Your Concerns about the U.S. Government Shutdown’s Impact on Science

Posted By: Staff

The American Society of Human Genetics (ASHG) deeply believes that ongoing federal government support is essential for the scientific enterprise in the United States. We affirm the important role of normal operations to keep scientific progress moving forward.

20190124_capitolAlthough – fortunately – the National Institutes of Health (NIH) is operational during the partial U.S. government shutdown, other science-based agencies that support and facilitate ASHG members’ work and that of their colleagues are not. Notably, the National Science Foundation (NSF) is affected.

ASHG is proud to stand with the Federation of American Societies for Experimental Biology (FASEB) in letting Congress know how the shutdown is affecting science. Please use FASEB’s Legislative Action Center to contact your members of Congress about how the shutdown is impeding progress and reaffirm the importance of science agencies in advancing research.

 

H.R. 7083: Improving Access to Genetic Counseling

Posted By: David L. Nelson, 2018 President

Genetic counseling is an integral part of advancing human genetics in medical care and vital to our collective research agenda. Recognizing this, ASHG took action last week in strong support of H.R. 7083, the Access to Genetic Counselor Services Act of 2018, which would expand access to genetic counseling services for Medicare beneficiaries. We took this action under the leadership of the National Society of Genetic Counselors (NSGC), and are proud to add our largest voice in the human genetics community to urge this policy change. NSGC is our valued partner on this legislation and other new programming to serve genetic counselors in research.

Specifically, I wrote to bill sponsors Representatives Erik Paulsen (R-MN) and David Loebsack (D-IA) expressing the Society’s gratitude for introducing this legislation and for seeking to resolve a problem that has existed for many years (see image). Currently, while genetic counseling is covered under Medicare, genetic counselors themselves are not currently recognized as providers by the Centers for Medicare and Medicaid Services, the federal agency that runs the program. This means that genetic counselors are unable to bill directly for any services rendered to Medicare beneficiaries.

The letter written by David Nelson, PhD, ASHG President, to U.S. Representatives Erik Paulsen (R-MN) and David Loebsack (D-IA).
The letter written by David Nelson, PhD, ASHG President, to U.S. Representatives Erik Paulsen (R-MN) and David Loebsack (D-IA).

H.R. 7083 is designed to resolve this coverage gap. If it were to become law, this bill would recognize licensed genetic counselors as Medicare healthcare providers, and further establish a path for Medicare reimbursement for other genetic counselors.  In this way, it will reduce the access issues to genetic counseling services currently faced by Medicare beneficiaries.

For this bill to become law, it will need to be passed by Congress in the next few days.  Given the many steps in the legislative process, this is highly unlikely.  However, we hope that the legislation is re-introduced when the Congress reconvenes next year and that Congress advances it swiftly through the legislative process.

To receive updates regarding progress of this bill and on other issues, I urge you to sign up as an ASHG Advocate if you have not already done so.

David L. Nelson, PhD, is the 2018 President of ASHG. He is a Cullen Foundation Professor of Molecular and Human Genetics at the Baylor College of Medicine, Associate Director of the BCM Intellectual and Developmental Disabilities Research Center, and Director of the BCM Integrative Molecular and Biomedical Sciences Graduate Program.