TY - JOUR
T1 - A multidisciplinary approach to the clinical management of Prader–Willi syndrome
AU - Duis, Jessica
AU - van Wattum, Pieter J.
AU - Scheimann, Ann
AU - Salehi, Parisa
AU - Brokamp, Elly
AU - Fairbrother, Laura
AU - Childers, Anna
AU - Shelton, Althea Robinson
AU - Bingham, Nathan C.
AU - Shoemaker, Ashley H.
AU - Miller, Jennifer L.
N1 - Funding Information:
Dr. Duis consults with Disruptive Nutrition and is a sub‐investigator on clinical trials funded by GLWL and Soleno Pharmaceuticals. Dr. Scheimann completed research funded by Zafgen Pharmaceuticals. Current sources of funding include NIMH and Foundation for Prader‐Willi Research. Dr. Salehi has completed research funded by Zafgen Pharmaceuticals. She is currently working with Soleno Pharmaceuticals. Current sources of funding to Dr. Miller include the Prader‐Willi Syndrome Association USA and the Foundation for Prader‐Willi Research. Dr. Shoemaker has completed research funded by Zafgen Pharmaceuticals and served on their hypothalamic obesity advisory board. She is participating in clinical trials funded by Soleno and GLWL Pharmaceuticals. Current sources of funding to Dr. Shoemaker include AstraZeneca, Novo Nordisk, Rhythm Pharmaceuticals, and NIDDK K23 DK101689. Dr. Miller completed research funded by Zafgen Pharmaceuticals,
Publisher Copyright:
© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
PY - 2019/3
Y1 - 2019/3
N2 - Background: Prader–Willi syndrome (PWS) is a complex neuroendocrine disorder affecting approximately 1/15,000–1/30,000 people. Unmet medical needs of individuals with PWS make it a rare disease that models the importance of multidisciplinary approaches to care with collaboration between academic centers, medical homes, industry, and parent organizations. Multidisciplinary clinics support comprehensive, patient-centered care for individuals with complex genetic disorders and their families. Value comes from improved communication and focuses on quality family-centered care. Methods: Interviews with medical professionals, scientists, managed care experts, parents, and individuals with PWS were conducted from July 1 to December 1, 2016. Review of the literature was used to provide support. Results: Data are presented based on consensus from these interviews by specialty focusing on unique aspects of care, research, and management. We have also defined the Center of Excellence beyond the multidisciplinary clinic. Conclusion: Establishment of clinics motivates collaboration to provide evidence-based new standards of care, increases the knowledge base including through randomized controlled trials, and offers an additional resource for the community. They have a role in global telemedicine, including to rural areas with few resources, and create opportunities for clinical work to inform basic and translational research. As a care team, we are currently charged with understanding the molecular basis of PWS beyond the known genetic cause; developing appropriate clinical outcome measures and biomarkers; bringing new therapies to change the natural history of disease; improving daily patient struggles, access to care, and caregiver burden; and decreasing healthcare load. Based on experience to date with a PWS multidisciplinary clinic, we propose a design for this approach and emphasize the development of “Centers of Excellence.” We highlight the dearth of evidence for management approaches creating huge gaps in care practices as a means to illustrate the importance of the collaborative environment and translational approaches.
AB - Background: Prader–Willi syndrome (PWS) is a complex neuroendocrine disorder affecting approximately 1/15,000–1/30,000 people. Unmet medical needs of individuals with PWS make it a rare disease that models the importance of multidisciplinary approaches to care with collaboration between academic centers, medical homes, industry, and parent organizations. Multidisciplinary clinics support comprehensive, patient-centered care for individuals with complex genetic disorders and their families. Value comes from improved communication and focuses on quality family-centered care. Methods: Interviews with medical professionals, scientists, managed care experts, parents, and individuals with PWS were conducted from July 1 to December 1, 2016. Review of the literature was used to provide support. Results: Data are presented based on consensus from these interviews by specialty focusing on unique aspects of care, research, and management. We have also defined the Center of Excellence beyond the multidisciplinary clinic. Conclusion: Establishment of clinics motivates collaboration to provide evidence-based new standards of care, increases the knowledge base including through randomized controlled trials, and offers an additional resource for the community. They have a role in global telemedicine, including to rural areas with few resources, and create opportunities for clinical work to inform basic and translational research. As a care team, we are currently charged with understanding the molecular basis of PWS beyond the known genetic cause; developing appropriate clinical outcome measures and biomarkers; bringing new therapies to change the natural history of disease; improving daily patient struggles, access to care, and caregiver burden; and decreasing healthcare load. Based on experience to date with a PWS multidisciplinary clinic, we propose a design for this approach and emphasize the development of “Centers of Excellence.” We highlight the dearth of evidence for management approaches creating huge gaps in care practices as a means to illustrate the importance of the collaborative environment and translational approaches.
KW - Prader–Willi syndrome
KW - genomic imprinting
KW - interdisciplinary communication
KW - outcome and process assessment (health care)
KW - telemedicine
KW - translational medical research
UR - http://www.scopus.com/inward/record.url?scp=85062900459&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85062900459&partnerID=8YFLogxK
U2 - 10.1002/mgg3.514
DO - 10.1002/mgg3.514
M3 - Review article
C2 - 30697974
AN - SCOPUS:85062900459
SN - 2324-9269
VL - 7
JO - Molecular Genetics and Genomic Medicine
JF - Molecular Genetics and Genomic Medicine
IS - 3
M1 - e514
ER -