Working Focus Groups – Your Voice is needed!
WFG’s are open to everyone to observe – in fact, we encourage your participation as we want inputs from all parts of the MLD and NBS ecosystems. Those who have previously registered here using a red button and have expressed WFG interest will automatically be registered. If you have not received specific WFG meeting attendance details by a week before the meeting, please register here and we will send you access details.
Upcoming Meetings and Discussions
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RUSP - Recommended Uniform Screening Panel
It’s Not All About the RUSPThe focus on the RUSP nomination is not purely about a RUSP Approval, rather it’s about the implementation of screening. As described above, the nomination requires a comprehensive evidence-based summary of everything about the proposed screen, all of which will be beneficial for a successful public health implementation. The RUSP nomination package will show evidence of efficacy and consensus – the keys to MLD screening implementation in public health systems.
Organizing for Success
Extensive effort has been put into establishing an organizational structure for an efficient, timely, and successful RUSP nomination. A core group of MLD and newborn screening experts, the Expert Advisory Group, has been convened to lead the RUSP Nomination preparation, submission, and approval. They will be assisted by seven different Working Focus Groups, each with a different emphasis and made of up representatives from the broader newborns screening, MLD, patient, and advocacy communities. A Project Consultant Team will be assisting to facilitate, handle logistics, and administer the project. As necessary, experts, consultants, and other resources will be engaged to provide specific short-term guidance and inputs. Details on each of these contributors to the project are provided below.
Expert Advisory Group
The EAG was launched in February 2020. They have since started their twice quarterly meetings as they work to guide and manage the MLD RUSP Approval project.
The EAG consists of MLD and newborn screeing experts with a broad perspective and knowledge that covers all of the key components of the RUSP Nomination. Their primary responsibility is to create a complete evidence-based RUSP Nomination.
The EAG will direct the contribution and approach of the Working Focus Groups, and through a healthy interactive dialog identify and develop strategies to address gaps in data, conclusions, publications, and recommendations required by the nomination form.
click on name to expand the bio …
Working Focus Groups
The Working Focus Groups (WFG’s) are topic-focused groups guided by, and contributing to, the efforts of MLD NBS Expert Advisory Group. These seven groups will be where extended discussions and insight will be shared in specific topic areas that are critical to a successful RUSP nomination and the implementation of MLD newborn screening.
It is expected these groups will meet at least twice a quarter, generally by video conference, however, there may be some extended time in-person meetings.
Everyone Can Join A WFG!
It’s important to engage and hear from many perspectives as we prepare our RUSP nomination and pursue implementation into various public health programs. Each of you has a unique perspective, experience, and insight to contribute. By including everyone’s inputs we hope to build understanding, perspective, and consensus … all key items as we approach state, province, and national labs for implementation. The Working Focus Groups are where you can directly contribute your thoughts, ideas, and concerns.
List of Working Focus Groups & Meeting Dates
The WFG’s correspond to the primary topics and considerations that are required for the RUSP nomination and to implement MLD NBS screening in public health. (Schedule as of 7/23)
- Bioethics … 3:00pm EDT, Mon 7/27
- Public Health … 11:00am EDT, Tue. 7/28
- Clinical Care & Research … 12:30 EDT, Tue. 7/28
- Education & Outreach … 4:00 pm EDT, Tue. 7/28
- Emerging Therapies & Clinical Care … 11am EDT, Wed. 7/29
- Access, Reimbursement & Legal … 4pm EDT, Thur 7/30
- Screening & Validation … 4pm EDT, Tue 9/15
AREA of FOCUS
Screen & Validation (S&V)
Chemistry, validation, reliability, and implementation of the lab test. Prof. Gelb will be guiding this group.
Clinical Care & Research (CCR)
This WFG picks up after the family is notified of the screening results and will focus on the diagnostic confirmation, clinical care, and therapy recommendations. Defining long-term feedback of phenotype, clinical care, and therapy results to improve future newborn recommendations. The hope is this group’s work will result in a formal MLD Standard of Care. Dr. Escolar will be guiding this group.
Education & Outreach (E&O)
Education and outreach to NBS screening labs, public health systems, treating clinicians, families, and advocacy in support of the clinical care, therapeutic recommendations and longer-term follow for patient care and to advance research.
Public Health (PH)
Adapt and help implement processes in public health systems, improvement in treating physician notification and guidance for patient notification, diagnostic confirmation, referrals, care management, and follow-up.
Access, Reimbursement, & Legal (ARL)
Access, reimbursement, and other legal & policy issues … in state payor/provider contract implementation, and access across state lines when appropriate therapy is not available locally or regionally.
Forthcoming Clinical Care and Therapies (FCT)
Future care and therapeutics that might impact MLD NBS after the RUSP nomination is submitted, under review, or in the near future.
Ensure the consideration of ethical issues in referral strategies for later-onset disease, clinical trial referrals, strategies when suitable or desired therapy is not accessible, medium & long-term followup, immediate & extended family notifications, etc.. In addition to working with the EAG, the Bioethics WFG will work very closely to inform and guide the other WFGs.
Project Consultant Team
The Project Consultant Team is an ongoing core support group for the EAG and WFGs throughout the term of the RUSP Nomination and Approval project providing perspective, insight, guidance, and content throughout the project to optimize the efficiency and quality of the preparation, submittal, review, and approval of the MLD RUSP Nomination. The PCT will also provide the infrastructure, a between-meeting collaboration platform, meeting facilitation, and administrative support. They will keep the MLDnewbornScreening.org website up to date as a resource to keep the medical, research, patient, and public health communities informed and to encourage their participation in appropriate areas of the project.
click on name to expand the bio …
Don Bailey, Ph.D. MEd – Director of RTI’s Center for Newborn Screening, Ethics, and Disability Studies and a recent member of the ACHDNC
Tara Mathiesen, BSN – Formerly Senior Director for US Diagnostics at Orchard Therapeutics. responsible for newborn screening and diagnostic partnerships and strategy.
Brad Therrell, Ph.D. – Director of the National Newborn Screening and Global Resource Center. Past President of the International Society for Neonatal Screening (ISNS)
MLD Foundation – MLD Foundation is a 20-year-old registered charity serving families globally and take the lead in coordinating the RANSIP NBS project