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Greeting from the mountains, where the snow has continued to fall on some of us,
while others are enjoying the warmth of spring - or even summer.
It was wonderful to see so many of you in Phoenix, and we'll use this
message to go over some of the exciting activities we enjoyed with you
MSGRC 2012-2013 Annual Meeting
you to many of our readers and members for participating in the
2012-2013 MSGRC Annual Meeting in Phoenix, AZ on March 17-19,
2013. We had a very busy and productive meeting! The agenda
included an update on the State of the Region from Dr. Celia Kaye, MSGRC
Project Director, and Dr. Kathryn Hassell, MSGRC Associate Project
Director. Many of MSGRC's national partners also presented on their
- Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC),
presented by Joseph A. Bocchini, Jr. MD, SACHDNC Chair & Professor
and Chairman, Department of Pediatrics, Louisiana State University
Health - Shreveport
- National Coordinating Center for the Regional Genetic and Newborn Screening Collaboratives (NCC), presented by Alisha Keehn, MPA, Project Manager, NCC and Debbie Maiese, MPA, Evaluator, NCC
- National Genetics Education and Consumer Network (NGECN) and Genetic Alliance, presented by Sharon Romelczyk, MPA, Project Manager, NGECN
- Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs), presented by Marci Sontag, PhD, Director of Epidemiology, NewSTEPs
- Newborn Screening Translational Research Network (NBSTRN), presented by Amy J. Hoffman, MPH, Project Manager, NBSTRN
We also learned
about regional activities addressing newborn screening for Critical
Congenital Heart Disease (CCHD) during a panel of presentations,
- Colorado CCHD Screening Pilot Study, presented by Jason Wright, MD, Neonatology Fellow, University of Colorado School of Medicine
- Utah CCHD Demonstration Grant, presented by Harper Randall, MD, FAAP, Medical Director, Division of Family Health and Preparedness, Utah Department of Health
- Texas Pulse Oximetry Project (TxPOP),
presented by Alice Gong, MD, Professor of Pediatrics, University of
Texas Health Science Center at San Antonio and Charleta Guillory, MD,
Associate Professor of Pediatrics, Neonatology Section, Baylor College
- Use of Telehealth in CCHD Screening, presented by Robert Puntel, MD, FAAP, FACC, Staff Cardiologist, Phoenix Children's Hospital
We've posted many of the PowerPoint presentations from the meeting on our website.
The Annual Meeting also included a number of workgroup and project team meetings, including the following:
- MSGRC Advisory Council
- Consumer Advocacy Workgroup
- Newborn Screening Workgroup with three breakouts (Laboratory, Follow-up, and Point-of-Care Screening)
- Medical Home Workgroup
- Emergency Preparedness Workgroup
- Telegenetics Workgroup
- MSGRC Metabolic Consortium
- MSGRC Hemoglobinopathies Advisory Group
The meeting marked the launch of the MSGRC Facebook page - be sure to "Like" MSGRC here. You can view pictures from the Annual Meeting on the Facebook page.
There are many
activities "in the works" based on these meetings and our discussions.
Stay tuned for workgroup meeting minutes, draft workgroup logic models,
and more information about our next meeting July 11-13, 2013. The July
meeting will have more time dedicated to our workgroups - a draft agenda
will be out soon!
MSGRC Co-Sponsors ACMG Community Conversation
were honored to co-sponsor the Community Conversation at the American
College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics
Meeting, which immediately followed the MSGRC Meeting. The
Community Conversation, titled Emerging from Darkness to Shed Light on
Genetics and Cultural Taboos in Native American Populations: A Community
Conversation was held on the evening of March 19th and was open to
public attendees as well as ACMG meeting participants. The tension
between the potential knowledge that can be gained through genetics
research and medicine, and cultural beliefs within the Native American
populations of the United States, was explored at the inaugural
Community Conversation held at the 2009 ACMG Annual Meeting ("Genetics
and Genetic Research: Native American Perspectives".) With the
release of the documentary, "Sun Kissed," (http://sunkissedthefilm.com/)
these tensions are further highlighted as the Nez family works to
understand why their children were born with xeroderma pigmentosum (XP)
and why the prevalence within the Navajo community is 1 in 30,000 versus
1 in one million in the general population. "Sun Kissed" follows
the Nez's as they negotiate between the cultural norms of their
community and their information and support needs as parents of children
with an incurable genetic condition.
Conversation gave attendees an opportunity to view the documentary "Sun
Kissed" and participate in a panel discussion with the Nez's and Maya
Stark, one of the filmmakers. Dorey and Yolanda Nez are close
friends and partners of MSGRC - be sure to check out the trailer for Sun
wonderful annual meeting reminded all of us at MSGRC of the critical
importance of each one of our members - providers, laboratory
specialists, public health experts, individuals with heritable
disorders, and families. As MSGRC and the other regional
collaboratives enhance our focus on access to services, we need all of
you to advise us and help us ensure the availability and accessibility
of excellent services within the medical home for everyone in our
Don't forget we want to hear about what you do outside of your work in genetics and public health.
are two pictures from our colleague and friend, Dr. Mary Kukolich, on
one of her trips to Angel Fire, New Mexico this winter.
|Visit from a neighbor!|
|Walking my dogs in the snow!|
Please send us your pictures and stories too!
I. Kaye, M.D., Ph.D.
Kathryn Hassell, M.D.