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.
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.
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.
Buried within the legislation establishing funding for the National Institutes of Health for Fiscal Year (FY) 2019 (H.R. 6157) is a little-reported provision to protect the genetic privacy of immigrant family members. Congress often uses the annual appropriations bills to direct federal agencies on how to proceed on a particular activity or to commission a report about a particular topic. This provision, proposed by Representatives Marcy Kaptur (D, OH-09) and Katherine Clark (D, MA-05), is one such directive.
In April, the Department of Homeland Security (DHS) began enforcing an existing family separation policy with the stated goal of stemming what DHS and other related agencies perceived to be a rise in illegal immigration at the U.S.—Mexico border. As was widely reported in the media, children were separated from their parents or legal guardians at the border and placed in the custody of the Department of Health and Human Services’ (HHS’s) Office of Refugee Resettlement (ORR), while the parents and legal guardians were held in criminal detention. In response, many members of Congress and the general public demanded reunification of these families, and in June a federal judge ordered that the more than 2,500 children in ORR custody be reunited with their families.
Family Reunification Involved Genetic Testing
To help reunite young children with their families by the July 5 deadline, HHS began using DNA testing to verify parentage. However, HHS provided few details regarding the testing, such as who was being tested, which labs were involved in performing the tests, and what testing was being performed. Importantly, there was also a lack of clarity regarding whether individuals were consenting to such testing, how HHS was protecting individuals’ genetic privacy, and how the test results could be used.
The provision added by Reps. Kaptur and Clark was designed to address some of these concerns. It directs ORR to “ensure the protection of privacy and genetic material, data, or information of children, parents, and of all individuals being tested and their relatives.” It also requires consent prior to collection and sample destruction once testing has concluded.
ASHG Applauds Kaptur and Clark for their Attention to Genetic Privacy
ASHG was very supportive of this provision, and President David L. Nelson sent letters to Reps. Kaptur and Clark thanking them for their “leadership in advancing measures to ensure individuals’ genetic privacy as immigrant families seek to be reunified.” He wrote that “…an individual’s genome includes information on his or her risk for disease, their ancestry, and their relatedness to others, [so] it is important that we protect the genetic privacy of people tested.” He went on to further say that “genetic analysis should be restricted to the explicit purpose for which a person is being tested.”
ASHG’s support for this provision is the latest way in which the Society is championing measures to protect individuals’ genetic privacy. ASHG is a strong supporter of the Genetic Information Nondiscrimination Act (GINA), which among its provisions protects genetic privacy related to employment and health insurance, as well as a similar law in Canada. It also supports provisions in the 21st Century Cures Act strengthening participant privacy in research. The Kaptur/Clark amendment extends some privacy protections to those seeking reunification and ensures that federal agencies cannot use their genetic information for any purpose beyond reunification.
Nikki Meadows, PhD, is the 2017-18 ASHG/NHGRI Genetics & Public Policy Fellow. For more information on ASHG’s policy and advocacy programs, please visit the Policy & Advocacy webpage.
Last month, the U.S. Congress approved legislation establishing a $2 billion (or 5.1%) funding increase for the National Institutes of Health (NIH) in Fiscal Year (FY) 2019. NIH’s total funding for FY 2019 is $39.1 billion. This includes increased funding for several priority research initiatives, such as the Cancer Moonshot and the All of Us research Initiative.
Increase Will Support New Priorities in Genetics and Genomics
The legislation (H.R. 6157) was signed into law by President Trump on September 28, after passing both the Senate (93-7) and the House (361-61). The $2 billion boost is the fourth consecutive increase in the NIH budget in recent years, demonstrating strong bipartisan support for biomedical research in Congress. Significantly, it is the first time in over 20 years that Congress has finalized the NIH budget on time.
In addition to Congress being able to allocate funding for specific research initiatives, the annual appropriations bill also gives Congress an opportunity to issue directives to federal agencies, such as establishing how an agency should proceed on a particular activity or commissioning a report about a particular topic. One such directive you may be familiar with is the so-called “Dickey-Wicker Amendment,” which forbids the use of federal research dollars on any research that harms human embryos. In the FY 2019 appropriations, there are three directives related to genetics and genomics:
A Government Accountability Office report was commissioned to analyze the medical genetics workforce nationwide. The report is asked to determine whether there are a sufficient number of qualified professionals to serve this growing health need and whether there are any geographic areas that lack access to genetic counseling professionals.
An amendment from Senator Marco Rubio (R-FL) requires the HHS Secretary to submit a report on the circumstances in which the Centers for Medicare and Medicaid Services may be providing payments to, or otherwise funding, entities that process genome or exome data in the People’s Republic of China or the Russian Federation.
Funding Bill’s Timely Passage Will Help with Long-Term Planning
The fiscal year runs from October 1 through September 30 of the following year, and each year, Congress is required to establish funding for upcoming fiscal year. For the past 21 years, Congress has missed the deadline, and in order to avoid a government shutdown, had to pass a Continuing Resolution (CR) that agreed to continue to fund the government until a new spending bill was completed. Indeed, such a scenario caused brief shutdowns last winter.
This year, the Department of Health and Human Services, which includes NIH, was funded through all of FY 2019, so there is no possibility of a shutdown for NIH. The budget’s timely passage means that institutes and centers can plan for the year ahead knowing what funds are available. However, other agencies, including the National Science Foundation, are currently funded by a CR until December 7, 2018, and funding for these agencies in FY 2019 remains uncertain.
What happens when you put three genetics experts in a room full of curious minds? Ideally, a fascinating conversation that everyone involved will still be talking about days later, and that’s exactly what happened in a U.S. Senate hearing room last Friday, September 28. The health staff of Senator Patty Murray, top Democrat on the U.S. Senate Committee on Health, Education, Labor and Pensions (HELP Committee), invited ASHG, along with the National Human Genome Research Institute (NHGRI) and the HudsonAlpha Institute for Biotechnology, to discuss genomics with Congressional staff working on health issues.
With genomic technologies becoming more prevalent in medicine and agriculture, it is critical that those making legislative policies impacting genetics and genomics have a good understanding of genomics research and its uses. NHGRI was represented by its Director, Eric Green, MD, PhD; HudsonAlpha invited their Vice President for Educational Outreach, Neil Lamb, PhD; and ASHG’s spokesperson was Kiran Musunuru, MD, PhD, MPH, an Associate Professor of Medicine at the University of Pennsylvania and our 2019 Program Committee Chair.
Dr. Green opened the conversation by discussing how technology advancements in the last two decades have revolutionized the field of genomics. He described how our ability to now sequence an individual’s entire genome quickly and cheaply has completely transformed how we think about genomics, the types of information we can glean from our genomes, and how we can apply this knowledge to realize the vision of personalized medicine. Dr. Musunuru explained how scientists are able to use genomics to increase our understanding of common diseases such as cardiovascular disease, and to explore possible avenues of treatment. He also explained why diversity in research cohorts is so important. Dr. Lamb finished up the introduction to genomics by talking about using genomic sequencing to study rare and undiagnosed diseases; he also touched on how using genomics in agriculture may have an impact on the plants and animals that we eat in the future.
A fascinating dialogue ensued between the expert panel and the Congressional staff regarding what personalized medicine will look like in the future, how genomic technologies are going to fit into existing healthcare framework, and the importance of genomic literacy at all levels.
Through participation in events like these on the Hill, ASHG is helping Congress understand the value of genetics research. It also helps us showcase the expertise of our members, and demonstrates that ASHG is a resource to which Congress can turn for expertise on human genetics and associated policy issues. In this way, we are able to build stronger relationships with members of Congress and their staff.
Guest Post By: Carson Martinez, Future of Privacy Forum
Consumers’ interest in accessing their genetic information has boomed, as companies bring increasingly affordable consumer genetic and personal genomic testing services to market. With more testing services available than ever before, it is estimated that more than 12 million consumers have signed up in recent years to explore the insights that can be drawn from their genes.
With many of these genetic testing services, individuals can share their genetic data with academic researchers or pharmaceutical researchers, and after reviewing an informed consent notice on potential risks, many choose to participate. By providing the research community the ability to analyze significantly larger and more diverse range of genetic data, individuals have helped researchers discover important breakthroughs in biomedical research, healthcare, and personalized medicine.
If consumers are to safely share this information, the sensitive details revealed by genetic data need to be safeguarded by companies. Genetic data is one of the most intimate types of information, as it may be used to identify predispositions and potential risk for future medical conditions, and may reveal information about and even implicate an individual’s family members, including future generations. And as we have seen in recent cases like the Golden State Killer, it also can be used as a powerful investigative tool by law enforcement.
Although laws such as the Genetic Information Nondiscrimination Act of 2008 protect against discriminatory uses of genetic data by employers and health insurers, consumers also need to be certain that companies will respect the privacy of their genetic data and give them strong controls over how it is used and shared.
With this in mind, I and other speakers will be discussing the privacy of personal genetic information at the ASHG 2018 Policy Luncheon, taking place Thursday, October 18.
As a think tank focused on helping chief privacy officers navigate privacy challenges and incorporate ethical data practices, the Future of Privacy Forum (FPF) believes that emerging technologies like consumer genetic tests are valuable, but that protecting individual privacy is core to the success of any industry. In this nascent industry, there is a need for strong guidelines.
Incorporating input from a wide range of stakeholders including the Federal Trade Commission, genetics experts, and privacy and consumer advocates, the document:
sets forward consumer rights to access and delete their genetic data;
requires informed consent for sharing genetic data for research;
bans the sharing of genetic data with third parties (such as employers, insurance companies, and educational institutions) without express consent;
requires valid legal process for disclosing genetic data to law enforcement; and
requires notice and consent for material changes to the policy and transfer of ownership, among others.
The Best Practices is supported by: Ancestry, 23andMe, Helix, MyHeritage, Habit, African Ancestry, FamilyTreeDNA, and Living DNA.
Carson Martinez is a Health Policy Fellow at the Future of Privacy Forum and leads FPF’s Health Privacy Project. To learn more about the Best Practices, attend the Policy Luncheon at the ASHG 2018 Annual Meeting in San Diego.
We’re excited to welcome Eve Granatosky, PhD, to the ASHG family!
Dr. Granatosky started the ASHG/NHGRI Genetics & Public Policy Fellowship in August, and we were able to sit down to discuss how she got into science policy and what most excites her about her new position. ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics and Public Policy Fellowship to give genetics professionals an opportunity to contribute to the policy-making process.
Eve: The ASHG/NHGRI Genetics & Public Policy Fellowship is one of the few fellowships that has a rotational structure, allowing me to sample a few different areas in science policy. I’m not sure exactly what type of policy I want to get into, or which stakeholders I want to work with, so this position will allow me to figure that out. I recommend it to anyone who’s interested in science policy, but uncertain about what their first steps into the field should be.
ASHG: How did your background lead you to science policy
Eve: I started my career at Stonehill College, with a BS in biochemistry, and received my PhD from the University of Notre Dame. While my research focused on the biosynthesis and therapeutic potential of complex molecules derived from soil bacteria, I also developed my love for science policy.
I went into graduate school not really knowing what I wanted to do, but while there, I got to hear a guest lecturer who was a biochemist by training but currently worked for the government on bioterrorism issues abroad. She was using her scientific degree outside of the lab and the purely medical realm. This was the first time I thought that I could do something different with my degree.
I also participated in a Capitol Hill Day, where I had the opportunity to advocate for scientific research to politicians. There, I met graduate students from other universities who were also interested in science policy. Their schools had groups on campus that allowed them to participate in science policy activities year-round, which led me to co-founding the Science Policy Initiative at Notre Dame (SPI@ND).
SPI@ND meets monthly to discuss policy issues, but also collaborates with other science policy groups, such as the National Science Policy Network, and runs outreach events on campus and in the community. Though SPI@ND now runs without me, I am proud to say that it is still a strong organization.
ASHG: Why science policy?
Eve: While at Notre Dame, I was working in a lab that focused on a rare neurodegenerative condition that largely affected children. In this position, I mostly interacted with researchers, but also got to meet some of the patients and their families. It was really inspiring to see the people who our research directly affected. Science policy is an avenue for me to continue to have that direct impact. It creates paths that get the research to the people who need it.
In addition, during my lab work, it occurred to me that there were striking differences in perspectives when it came to how scientists and nonscientists viewed some issues, such as the use of genetically modified organisms. I want to assist in addressing these differences and produce work that will help all stakeholders benefit from the research being done.
ASHG: What policy issues interest you?
Eve: Making diagnostic and therapeutic tools for rare diseases more accessible to patients is a need in the field. We also have to make sure that the regulatory environment is favorable towards these developments, and that patients can more easily participate in clinical trials for new interventions.
Collaboration is a major part of these efforts. Without collaboration between organizations, both private and public, research ceases to advance and useful clinical trials won’t exist.
ASHG: Where do you think genetics is heading?
Eve: I’m really excited to see that the general public is becoming more interested in genetics because of services like direct-to-consumer genetic testing. I obviously love genetics and science, so this is a great time for us! I believe genetic testing will continue to become more accessible and useful, especially when it comes to developing precision medicine.
ASHG: Any final words for fellow scientists interested in science policy?
Eve: Twitter is a fantastic source to learn about science policy. The hashtags #scipol and #SciPolJobs are very active, and useful when it comes to finding opportunities to get involved. Science policy advocates are also engaged on Twitter and will live-tweet hearings or give their opinions on bills. Definitely check out those feeds to get a sense for what you might be interested in and what the field is looking for.
The ASHG/NHGRI Genetics & Public Policy Fellowship is designed as a bridge for genetics professionals wishing to transition to a policy career. This unique fellowship provides three separate types of experiences: time spent in the National Institutes of Health within the Executive Branch; a staff position on Capitol Hill serving elected officials in the Legislative Branch; and experience working with ASHG in the non-profit science advocacy sector. Applications open annually in February.
As you may recall, last year, the National Academies of Sciences, Engineering, and Medicine (NASEM) was asked by the Centers for Medicare & Medicaid Services (CMS), the Food and Drug Administration (FDA), and the National Institutes of Health (NIH) to evaluate the many issues and perspectives surrounding ‘the return of individual-specific research results generated in research laboratories’.
In keeping with the trend towards greater participant inclusion, the recently launched All of Us program promises to share individual-level data with participants. By signaling greater involvement in the research process and dubbing All of Us participants as ‘partners’, NIH hopes to make participation more valuable and equitable.
Given this context, the NASEM committee was charged with evaluating the ethical, social, regulatory, and operational issues associated with returning results to participants. With many members involved in such research, ASHG submitted comments to the committee that focused on the complexity of returning individual-specific results of genomics research, outlining areas of consensus and contention within the genomics community.
The NASEM committee’s report, released last month, aligns with ASHG’s comments in some ways as well as revealing meaningful differences of perspective. For example, ASHG recommended that research funding include financial support for returning results to participants to make the task more viable. However, the NASEM report calls for research institutions and funding agencies to “develop and provide access to the resources and infrastructure needed to ensure that investigators conducting testing…can meet the necessary standards for quality”. Overall, NASEM’s report emphasizes addressing the quality of results over the burden to researchers in operationalizing their return.
The committee recommends placing greater responsibility on researchers returning individual-specific research results. It also proposes several guiding principles for researchers: chiefly, that the return of results be considered from the inception of the study, through its design and development, and that laboratories that plan to return results adopt high-quality standards.
However, the committee acknowledges that the diversity in size, funding, and scale of research laboratories makes CLIA certification, the clinically required regulation for laboratories issuing any test results to individuals, at times inappropriate or unnecessary for returning results not intended to inform clinical care. To address the financial, logistical, and operational hurdles of returning high-quality laboratory analyses with confidence, the committee suggests the creation of an accepted quality management system for research laboratories as an alternative to CLIA certification.