ASHG Partners with ACMG for Congressional Briefing: The Undiagnosed Diseases Network

Posted By: Jil Staszewski, Policy & Advocacy Manager, ASHG

ASHG and the American College of Medical Genetics and Genomics (ACMG) have partnered together to launch a series of congressional briefings on Capitol Hill to educate Congress on the importance of genetics and genomics research and medicine. Congressional briefings provide an opportunity for organizations to engage members of Congress and their staff on a particular topic or issue.

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L-R: Katie Murray, a staffer in briefing sponsor Rep. Loebsack’s office; and speakers John Phillips III, MD; Bill Gahl, MD, PhD; Gail Jarvik, MD, PhD; and Danny Miller.

For genetics and genomics, it is important that members of Congress and their staff understand the value that sustained federal funding holds for genetics and genomics research, and its translation to clinical applications that benefit patients and research institutions nationwide.

On Thursday, September 26, the initial briefing in this series was held, titled, “The Undiagnosed Diseases Network (UDN): The Interface of Research and Clinical Care to Solve Medical Mysteries,” sponsored by Representative Dave Loebsack (D-IA). Gail Jarvik, MD, PhD, ASHG Secretary and Co-Principal Investigator at the University of Washington UDN, moderated the briefing.

In her opening remarks, Dr. Jarvik noted the value of this ASHG-ACMG partnership and the significance of highlighting the UDN, stating, “The expertise of these two organizations and their members spans the facet of genetics from basic research to clinical practice. Just as research informs clinical practice, information learned in the clinic also informs research. Not only is the Undiagnosed Diseases Network an excellent example of this, but it is also a great example of how federal funding for such a program can broadly impact clinical care and research beyond the program itself.”

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Dr. Gahl (middle) and Dr. Jarvik (right) discuss the importance of federal funding for clinical care and research.

Additional speakers included Bill Gahl, MD, PhD, Director of the Undiagnosed Diseases Program at NHGRI; John Phillips, III, MD, Co-Principal Investigator at the Vanderbilt University UDN; and Danny Miller, the father of two patients who were diagnosed through the Stanford University UDN.

Dr. Gahl spoke about the history of how his work with the Undiagnosed Diseases Program eventually evolved into the NIH-funded Undiagnosed Diseases Network in 2013. Dr. Phillips went into detail about some of the research and diagnoses he has been able to complete through the UDN, and how the UDN allows for a unique team-based approach in identifying undiagnosed diseases. Danny Miller gave a passionate testament of how the UDN has benefited the lives of his two children, and why continued, increased federal funding is so vital in helping other patients with undiagnosed diseases and their families nationwide.

If you are interested in hearing more about the speakers’ stories, stay tuned! A video of the briefing presentations will be made available in the near future.

Have an idea about a future briefing topic? Let ASHG know at policy@ashg.org. To stay up-to-date on genetics and genomics policy issues, subscribe to our monthly policy and advocacy email updates.

Trainees Advocate on Capitol Hill: 2019 Rally for Medical Research

Posted By: Jil Staszewski, Policy & Advocacy Manager, ASHG

September 18-19 marked the 2019 Rally for Medical Research, hosted by the American Association for Cancer Research (AACR). Three hundred scientists, physicians, patients, and activists met with their elected officials on Capitol Hill, calling for an increase of at least $2.5 billion in NIH funding in Fiscal Year (FY) 2020.

Emily Davenport, PhD, of Pennsylvania; and Grace Kwon, BS, of Connecticut, both members of the Training & Development Committee, participated in this event, sharing their stories with seven congressional offices to make a case for this increase in funding.

ASHG: How was your overall first experience advocating on the Hill?

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Grace Kwon with Senator Christopher Murphy’s (D-CT) staffer

Grace Kwon: Participating in the Rally for Medical Research was a wonderful experience. It put into perspective the wide-ranging impact both basic and clinical research can have across the country, at an individual and community level.

The opportunity to directly advocate for increased NIH funding to Congressional offices was a unique experience that a graduate student might think wouldn’t have a large impact. However, as the only constituent from the state of Connecticut I was able to give personal examples of how NIH funding has made an impact on my training thus far. As a student, I was also able to directly speak about the impact that a sustained increase in NIH funding would have on my future career.

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Emily Davenport meets Senator Bob Casey, Jr. (D-PA)

Emily Davenport: I had a great time advocating for NIH funding with the Rally for Medical Research. I was able to meet with elected officials and/or staff from both of the Senators and three of the representatives from my state, along with other researchers, patients, and advocates. Every conversation was different. The perspectives of everyone in the room emphasized the broad reach NIH funding has, including not only improving health, but for science careers, job creation, and education.

ASHG: Why is it important for scientists to meet with their members of Congress?

Emily: Science takes time and science careers can be unstable. As working scientists, we are all too aware of those facts, but they aren’t always clear to our representatives. It’s incredibly useful for members of Congress to meet with researchers to understand just how long it takes to go from having an idea, to securing funding, to performing the research, and then potentially translating that research into something clinically useful.

Having stable and predictable funding is the only way that can happen. Representatives see first-hand what their support is capable of generating by hearing examples of the research discoveries happening in their home districts.

Grace: The fact that the Rally for Medical Research brought a wide-ranging group of individuals is a testament to the impact that NIH funding has in the United States. Scientists bring one unique perspective that will help Congressional leaders understand how increasing NIH funding provides both short- and long-term benefits. Important innovations like cancer immunotherapies, genetic testing, and vaccines started in the laboratory.

There is also an underlying notion that science and research is inaccessible to the general public. This is false! Science is for and impacts everyone. It is a scientist’s responsibility to make their research understandable to those outside of the field and provide a broader context for their research focus.

ASHG: What are some ways your colleagues and fellow ASHG members can get involved in advocacy?

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Grace Kwon, BS (left) and Emily Davenport, PhD (right) with a displayed quote from ASHG President-Elect, Anthony Wynshaw-Boris, MD, PhD at Wednesday’s reception

Grace: Reach out to your state’s Congressional leaders! ASHG has many opportunities listed on their webpage, where you can also send a letter to your state’s Senators. Institutions often have an office dedicated to working on legislation focused on science-related issues, such as research funding – I would reach out to them for any opportunities they have available. If you are a trainee or student, you can form a student group or organization focused on advocating for a specific cause if your institution does not already have one.

Emily: Advocacy comes in all shapes and sizes. You can do as little as take 10 minutes to call or email your representatives about an issue that’s important to you, or go as far as applying to do a policy fellowship to be directly involved on a daily basis. One great way to start getting involved is “taking the pledge” and becoming an ASHG Advocate. You’ll get monthly email updates with up-to-date action alerts, genetics policy news, and relevant policy-related events.

Please visit ASHG’s Advocacy Center and “Take the Pledge” to become an ASHG Advocate!

Advancing Research and Privacy: Achievements, Challenges, and Core Principles

Posted By: Les Biesecker, ASHG President

Today, ASHG issued a new Perspective in The American Journal of Human Genetics (AJHG) entitled, “Advancing Research and Privacy: Achievements, Challenges, and Core Principles”. In the Perspective, the ASHG Executive Committee emphasizes the tremendous value of data sharing to advance genetics and genomics research, and the ongoing and unwavering commitment of members of our field to protecting the privacy of research participants. It also articulates core privacy principles that the Society believes should apply to all human genetics and genomics research.

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ASHG’s newest Perspective appeared today in AJHG.

This Perspective is timely given the current global debate on data privacy and the many countries establishing new broad citizen privacy protections, the European General Data Protection Regulation (GDPR) being a notable example. Within these discussions, it is important to emphasize that genetic privacy in publicly funded research is well-regulated and researchers are careful custodians of research participants’ genetic information. It behooves us, both in the U.S. and in other countries, to monitor proposed policies to ensure they balance important consent and privacy protections with the vital health and medical benefits that can come from genetics and genomics research.

The new Perspective notes that, within the U.S., many genetic privacy laws apply only to federally funded research. Increasingly, researchers in our community—both in academia and industry—recognize the potentially useful role of data generated by entities that are not federally funded to pursue shared health goals. We believe these data should be secured using standards equivalent to those for federally-funded entities.

Thus, to enable these data to be collected ethically and benefit all consumers through future improved health and medicine, ASHG believes the core principles described in the Perspective should apply to all genomic research, irrespective of the funding source. The Society was encouraged by recent efforts by a collective group of private companies to develop core privacy principles, and ASHG is eager to foster further dialogue to advance research data privacy policies that advance the shared values of the research community and adhere to informed consent and privacy best practices.

This is the third in the Perspectives series. We look forward to continuing the dialogue on important policy issues at the Annual Meeting, through AJHG, and other venues.

Leslie G. Biesecker, MD, is 2019 President of ASHG. 

Patients over Patents: AMP and ASHG Reaffirm that Genes Should Not be Patentable

Guest Post By: Mary Steele Williams, MNA, MT(ASCP)SM, Executive Director of Association for Molecular Pathology

Earlier this summer, the Association for Molecular Pathology (AMP) spearheaded a sign-on letter with the American Civil Liberties Union (ACLU), ASHG, and a diverse community of approximately 200 medical, scientific, patient advocacy, women’s health, and civil rights organizations.

Mary Steele Williams, Executive Director of Association for Molecular Pathology (AMP), and Dr. Roger Klein, MD, JD, AMP leader, outside the Supreme Court Building, Washington, D.C., during AMP v. Myriad in 2013.” (Provided by AMP)
Mary Steele Williams, Executive Director of Association for Molecular Pathology (AMP), and Dr. Roger Klein, MD, JD, AMP leader, outside the Supreme Court Building, Washington, D.C., during AMP v. Myriad in 2013. (Provided by AMP)

The letter expressed serious concerns with the recent draft proposal to amend Section 101 of the Patent Act, and warned about the significant consequences of allowing DNA and gene-disease associations to be patentable. ASHG and ACMG past and current leadership also sent out a letter to the bill’s sponsors expressing similar concerns. This month, ASHG caught up with Mary Steele Williams, Executive Director of AMP to discuss the history of gene patents and the current legislation.

ASHG: What would it mean for the genetics community if genes could be patented?

Ms. Williams: This proposal would have massive reverberations across all sectors of the genetics community. If naturally-occurring DNA sequences, segments or gene-disease associations become patent-eligible again, there would be serious consequences for research and clinical diagnostics. Legislation that allows the patenting of natural phenomena, laws of nature or abstract ideas would impede innovation by hampering discovery and the development of new technologies – because these aspects of nature cannot be designed or invented around. The clinical application of genetic research, diagnostic tests, and clinical services would be stymied. For example, multi-gene sequencing panels could require licensing arrangements for each gene or gene variant, which would significantly drive up costs for patient care. Even worse, testing could become unavailable altogether if owners refused to license at reasonable (or any) terms.

ASHG: What would it mean for the general public?

Ms. Williams: Patient care would become stifled, as we would return to the days when the basics of nature, our genes, and the mental processes of gene-disease association could be privately owned and restricted in access. Patent holders could choose whether a diagnostic test could be developed and by whom, and even influence its overall design. This could result in a test being offered by a single entity, an outdated version of a test being the only one available, or not being available at all. This was increasingly the norm prior to the 2013 Association for Molecular Pathology v Myriad Genetics ruling. Because gene sequences are not patent-eligible, a lot of amazing research and progress in clinical care is able to evolve and thrive, and it is critical that we protect this innovation.

ASHG: Tell us about the 2013 AMP v. Myriad ruling and its effects.

Ms. Williams: For over 150 years, the Supreme Court has held that laws of nature, natural phenomena, and abstract ideas are not patent-eligible under Section 101 of the Patent Act. In the landmark 2013 AMP v. Myriad  case, a unanimous Supreme Court ruled in favor of the plaintiffs (AMP, et al.) and determined that a “naturally occurring DNA segment is a product of nature and not patent-eligible merely because it has been isolated.” The Court concluded that such patents would lock up genetic information and prevent others from scientific and medical work.

The Court’s 2013 ruling was the culmination of many years of deep concern within the medical field, and was celebrated across the greater scientific community who fought hard for the chance to be heard. The positive impact was immediate, and molecular testing is now part of the standard of care. On the day of the AMP v. Myriad decision, five laboratories announced their intention to develop BRCA1/2 tests. Since then, the clinical use of genetic tests and genetic research has continued to thrive. We are now approaching 10,000 multi-gene panel tests on the market with an average of 14 new molecular tests added each day.

ASHG: Why and how has this issue re-emerged?

Ms. Williams: Earlier this year, following a series of closed roundtable discussions, Senators Tillis (R-NC) and Coons (D-DE) and Representatives Collins (R-GA), Johnson (D-GA), and Stivers (R-OH) released draft legislation that proposed to radically alter Section 101 of the Patent Act. The draft language would shift the focus of Section 101 to favor those seeking patents by allowing patents on anything found to be useful. It explicitly indicates  that judicially-created exceptions for abstract ideas, laws of nature, or natural phenomena cannot be used to determine patent eligibility. Essentially, the draft proposes to abrogate all court decisions that led to or supported those exceptions, including Mayo Collaborative Servs. v. Prometheus (2012), AMP v. Myriad (2013), and Alice Corp. v. CLS Bank (2014).

ASHG: What is AMP doing in response?

Ms. Williams: Since the draft was released, the sponsors of the legislation have stated that it was not their intent to allow patenting of “DNA within the human body.” However, this argument does not alleviate AMP’s concerns. The AMP v. Myriad decision was so important because it specifically determined that naturally occurring DNA sequences or segments are products of nature, and are not patent-eligible merely because they had been isolated.

AMP remains very concerned about the actual impact the draft legislation would have and the consequences of this evolving proposal, regardless of stated intent. The potential effects this legislation could have on research and patient care would be enormous and damaging. AMP anticipates that the next draft of the legislative proposal will be released sometime in the next few months. In the meantime, AMP continues to work diligently with aligned stakeholders, including ASHG, to lead efforts to educate others about this issue and advocate for naturally-occurring DNA sequences or segments and gene-disease associations to remain patent-ineligible.

Today, AMP is prepared to win this fight again. In this age of precision medicine, it is more important than ever to maintain the boundaries between nature and technology, so that we can continue to develop innovative diagnostics for devastating diseases and provide access to the best medical care. Since the Supreme Court’s 2013 decision, multiplex gene panels that feature dozens of genes in a single test are now routine practice. Advances such as this would have been difficult, if not impossible, without the Court’s decision. We must keep the focus on patients.

To stay up-to-date on this issue and more, be sure to subscribe to ASHG’s monthly policy and advocacy email updates.

Take Action this August Recess: Meet Your Elected Officials

Posted By: Jil Staszewski, Policy and Advocacy Manager

Starting this week, U.S. elected officials in Washington, DC will go into August recess. While Capitol Hill will grow quieter during the break, this doesn’t mean our advocacy activity should stop. In fact, this recess creates a unique opportunity for you as a constituent to help keep the momentum going right at home.

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ASHG members Lauren Tindale and Burcu Darst, and FASEB President Hannah Carey, met with Senator Tammy Baldwin in 2018.

As you may be aware, ASHG, along with FASEB, the Ad Hoc Group for Medical Research, and the rest of the biomedical research community has been busy advocating for a $41.6 billion budget for the NIH for Fiscal Year (FY) 2020 – a $2.5 billion increase from FY 2019. Last month, the House passed a $41.1 billion budget, and after the August recess, the Senate will begin developing its own legislation.

As your Members of Congress travel back to their home state or district offices for the remainder of the summer, scheduling a face-to-face meeting is a powerful way to establish a connection and advocate for your profession. Your personal story and achievements help your legislator understand the significance of your work in the state or district they represent, and why supporting NIH funding is crucial.

Not sure where to start? Here is a step-by-step guide (PDF version).

  1. Request the meeting.
    • Find your elected officials and their contact information using the House and Senate.
    • Email the legislator using the contact form or email address provided. In your email, be sure to confirm that you are a constituent, mention which institution you are from, and briefly describe the purpose of the meeting. Use the below template letter as a guide.
    • If you do not hear back within a week, you may follow up with the staff, as they receive many requests. Email again, and call the office and speak with the scheduler if necessary.

Dear Senator/Representative ______________:

My name is ____ and I am a geneticist and your constituent. I am writing to request a meeting with you and your staff in your district office to discuss the value of robust funding for the National Institutes of Health (NIH) and its significance for my work. I am available to meet on (date). Please let me know a time that would work best for you.

Thank you so much for your time, and I look forward to meeting with you to discuss this important issue. You may contact me at (email/phone #).        

Sincerely,

[Your name, institution, address, and contact information]

  1. Once confirmed, prepare for the meeting.
    • The purpose of the meeting is to educate your Member of Congress about the importance of the field, and the value of federal funding and its impact on your research. Bring a handout to leave with the legislator and read through the material beforehand.
    • Read up on the legislator you are meeting with. Having a shared personal connection can help develop a rapport and make a lasting impression.
    • Develop a list of questions the legislator might ask and how you can answer them.
    • Let ASHG know the date of your meeting and who you are meeting with.
  2. Attend the meeting.
    • Describe your job using layman’s terms, and connecting it to the legislator’s constituents.
    • Thank the legislator for their support on past relevant issues.
    • Explain why the legislator’s support of increased NIH funding would be valuable for your work, and that this year, the research community is asking for $41.6 billion.
    • Answer any questions the legislator may have and ask how else you can be of assistance.
    • Take pictures with the legislator and their staff!
    • Leave behind materials, including your business card, and ask for theirs and their staff’s.
    • Invite the Member to visit your lab.
  3. Follow up.
    • Send a follow-up email shortly after the visit, thanking the legislator and staffer for their time.
    • Let ASHG policy staff know how the meeting went! Send us an email at policy@ashg.org. We may ask you to share your experience to help other ASHG advocates.

We look forward to hearing your stories, and are happy to assist with any questions  – just email policy@ashg.org. Thank you for your continued advocacy.

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

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.