RUSP Roundtable: Perspectives on Newborn and Childhood Screening
Executive Summary – August 2015 Meeting
The inaugural RUSP Roundtable, hosted by MLD Foundation and sponsored by Illumina with support from Shire, Genzyme, Ultragenyx, EveryLife Foundation, and ArmaGen, took place August 26, 2015, in Rockville, Maryland. The RUSP Roundtable convened 30 newborn screening (NBS) opinion leaders from academia, governmental agencies, clinical and social research, public health, private industry, and patient advocacy in a unique, open, independent forum to speak with candor about current newborn screening challenges, concerns, and developments with an eye toward the future of NBS. The discussion started with the RUSP criteria but quickly broadened to include a multitude of NBS issues.
The purpose of this and future RUSP Roundtables is to create an open well-informed space to share perspectives and insights from key experts in the NBS space, expand the common knowledge base, and identify opportunities for both coalition building and collaborations across sectors to innovate and accelerate programs to make NBS more robust and equitable.
The Roundtable opened with a discussion of the history of NBS in the US followed by brief presentations on the range of perspectives at the table. Participants spoke on behalf of patient advocates and caregivers, policy-makers, bioethicists, public health officials, health IT, clinical and social research, biopharmaceutical development, and genetic biotechnology.
The RUSP viable therapy requirement served as a springboard and bellwether for guided but unstructured dialog facilitated by MLD Foundation. Several hours of open discussion brought key issues into sharper focus. There were presentations on new research initiatives, state-of-the-art technology, and private sector activities.
Participants volunteered thoughts and suggestions about ways to overcome obstacles and reform the NBS system in an era of rapid biomedical innovation. Emerging threads from this meeting will guide the agenda for focused discussion at future RUSP Roundtables.
Feedback from a public-health representative in attendance:
The project you have helped facilitate is critically important to NBS! There is the opportunity for the RUSP Roundtable meetings to assemble information and construct a framework (as a shared understanding) for helping to guide NBS decision making that may not be possible in other settings. I see the potential for these meetings to help guide NBS going forward into the future [as] the current decision making processes are leading to an unsustainable future.
Though invited, healthcare payors declined to participate. There was general agreement it would be desirable to have the payor perspective at future meetings. Clinicians and ethicists were also underrepresented. Invitations to attend future RUSP Roundtables will be extended to integrated healthcare and payors, the American Academy of Pediatrics, the American Academy of Family Practitioners, and the American College of Obstetricians and Gynecologists.
2016 RUSP Roundtable Schedule
The next RUSP Roundtable will be held Feb. 10th, 2016, immediately prior to the next Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) quarterly meeting.
This inaugural RUSP Roundtable was intentionally designed and facilitated to bring key opinion leaders from many NBS perspectives together to help find common ground and learn from the many perspectives present. Indeed, everyone gained from the varied perspectives and the conversation was very rich. As the trust built among the attendees the sharing of concerns and issues became much more open and the discussions deepened. This first meeting was not designed to draw any specific actions or conclusions, rather it was intended to pave a wave for future discussions, deliberation, and collaborations.
A paper is being prepared to more formally document the Roundtable.
Key topics of discussion included:
- Clarifying the RUSP benefit criteria including the scope of the benefit and to whom should or can the benefit accrue
- RUSP viable therapy requirement – can the diagnostic odyssey be reduced and quality of life improved simply by proactively knowing an infant has a condition without regard to if a disease-modifying treatment is available?
- Public health nature of NBS – the purpose of public health programs, resources for expanding screening and follow up, access/equity, consent, the impact of research on the system and the public’s perceptions.
- Positive and negative impacts of research built on the NBS system and archived dried blood spots (DBS), including consent and common rule requirements and opt-out provisions. Increasing privacy concerns about DBS as DNA and genomic data beginning captured and potentially misused by the government.
- Expanding what is screened for in NBS – positive and negative impacts including state implementation/expansion and resource limitations, the potential for supporting years of surveillance for signs of a later-onset disorder that cannot be accurately specified during the screen and subsequent diagnostics designed to target an earlier onset variant.
- Shortages of clinical specialists, holes in newborn health record keeping, differing procedures in every state, and long-term patient tracking/observation in a highly mobile society make coordinating longer-term care extraordinarily challenging.
- Potential new NBS methods and flows including peri-natal and pre-natal genomic sequencing and the EarlyCheck™ Expanded Health Screening program just being launched.
- NIH-funded Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) initiative offered a glimpse at state-of-the-art research while exploring the clinical utility of next-generation genomic sequencing (full & focused) by studying factors from prenatal education and informed consent to accuracy, timely interpretation response, throughput, variants with currently unknown significance. What can be learned and applied from the current NGS research model being used in the oncology space, and how can clinical data be pro-actively fed back to inform the significance of unknown genomic variants?
- Leveraging the charter of the ACHDNC to focus on more than newborn screening and perhaps include a life cycle approach that spans multiple activities at various ages including potentially partnering the American Academy of Pediatrics (AAP) and the American Academy of Family Physicians (AAFP) could support a public health screening program from birth through adulthood in a way that sustains equity and access.
- Policies that impede research and development of therapies and new screens necessary to qualify new conditions for the RUSP, including the paucity of data for increasingly complex conditions and NBS as a tool to identify enough rare disease patients to conduct clinical research.
- How can advocacy groups impact the NBS and public policy landscape? They are able to address the constraints of institutional affiliations, governmental policy, state/federal NBS conflicts, resource limitations, and traditional momentum. They can leverage their broad independent status to facilitate common interests in NBS policy change at the state and federal level.
There was a general consensus the dialog was very productive, the breadth of participation was good but should be slightly expanded, and future Roundtables should include both more open discussion and some deeper work on the issues raised. Participants came away with new insights and a fresh focus on ways to work across sectors in both informal and formal coalitions to overcome obstacles and reach shared goals. Plans are underway for two RUSP Roundtables in 2016.
For further information please contact:
Dean Suhr, President, MLD Foundation 503-656-4808
RUSP Roundtable website: http://NewbornScreening.us