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.
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.
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.
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.
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.
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).
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 #).
[Your name, institution, address, and contact information]
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.
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.
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 email@example.com. 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 firstname.lastname@example.org. Thank you for your continued advocacy.
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.
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
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.
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.
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.”
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.
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.
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.
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.
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.
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.