Texas Health Institute continues to serve as the administrator of the Mountain States Genetics Regional Collaborative Center (MSGRCC).  The MSGRCC serves eight states:  Arizona, Colorado, Montana, Nevada, New Mexico, Texas, Utah and Wyoming.  The purpose of the MSGRCC is to collaborate for the purpose of ensuring that individuals with heritable disorders and their families have access to quality care and appropriate genetic expertise and information in the context of a medical home.  To serve this purpose, the MSGRCC supports five workgroups:

Consumer Advocacy Workgroup - The consumer workgroup will examine and advise the MSGRCC to ensure consumer focus. At least one consumer representative will represent this workgroup on all other workgroups.

Public Health Workgroup - The public health workgroup will examine and advise the MSGRCC to ensure the use of public health practices. This workgroup is where issues such as emergency preparedness, medical home, telemedicine and family history will be addressed. We will create ad hoc sub-groups within this workgroup to address these topics. At least one public health representative will represent this workgroup on all other workgroups.

Standard and Emergent Technologies Workgroup (previously the Laboratory Practices Committee) - This workgroup will collaborate on initiatives for continuous quality improvement for regional genetics laboratories and education related to clinical laboratory testing of heritable disorders to primary care physicians and families by direct collaboration among participants in the region.

Quality Improvement Workgroup (previously the Clinical Services Committee) - This workgroups mission is to improve the quality and accessibility of clinical genetics services in the mountain states.

Newborn Screening Workgroup - (Previously the Newborn Screening Committee).  Newborn Screening Committee members share expertise and resources between laboratory and follow-up aspects of newborn screening in order to assure quality in biochemical genetics-screening and to promote state-of-the-art follow-up of affected newborns in this region.

Additionally, the MSGRCC is supporting the following projects:

Laboratory Quality Assurance Project

Project Lead:  Dr. Marzia Pasquali

This project will address the increased rate of false positives/false negatives due to failure to recognize patterns of abnormal metabolites and failure to adopt 2nd tier tests.  Specifically, Dr. Pasquali will:

• Collect and exchange newborn blood spots from patients with confirmed metabolic disorders and from patients with abnormal metabolites due to iatrogenic effects;
• Provide an evaluation of results that will include information about the disease, why certain metabolites are abnormally elevated, urgency of follow-up; and
• Promote the use of second tier testing to reduce the number of false positive (and, in some cases, false negative) results.

Newborn Screening Outcomes Project

Project Lead:  Dr. Janet Thomas

Nearly all states throughout the country are moving toward expanded newborn screening.  Doing so will result in the diagnosis of many inborn errors of metabolism in asymptomatic newborns that were previously diagnosed in symptomatic infants and children.  Early diagnosis is naturally felt to be beneficial and result in better medical and developmental outcomes for the children, however, for many of the disorders detected by expanded newborn screening, this is speculative as there is a current lack of long term follow-up. 

The lack of outcome data for presymptomatically or very early diagnosed infants with many inborn errors of metabolism signals the need for this information to be gathered.  This requires systematic, consistent, and reliable data collection of as many patients as possible.  Given the rarity of these conditions, patient information needs to be gathered from across the region.

The biochemical genetic care providers throughout the Mountain States Region have a long history of strong collaboration and cooperation.  By bringing together the regional care providers, systematically reviewing the disorders to be diagnosed via expanded newborn screening, determining appropriate clinical parameters and outcome measures to be collected, and subsequently systematically gathering the determined information, we will be able to prospectively collect the necessary information that will begin to inform on the long term outcome of such disorders and do so with appropriate patient volume.

Socio-Cultural Diversity Project

African American and Hispanic Populations

Project Lead:  Dr. Kathryn Hassell

In all states in the Mountain States Region, infants identified with sickle cell disease by newborn screening are contacted by newborn screening follow-up personnel and referred to a regional sickle cell disease expert.  However, the extent of life-long care for sickle cell patients in other areas of the region by providers with relevant knowledge about sickle cell disease, especially into adulthood, is unknown.  

The target population in the region extends beyond the African American community.  According to results of a Colorado Sickle Cell Center project ("Identification of Possible Communities at Risk for Sickle Cell Trait"), funded by the Mountain States Genetics Regional Collaborative Center, 29% of infants born in Colorado with sickle cell trait in 2005 were born to mothers who self-identified to be of Hispanic descent on their birth certificate.  Unfortunately, only a limited amount of patient educational material is available in Spanish, and most Spanish-speaking providers lack even basic knowledge about sickle cell disease.  Other cultural groups, including native Africans, seek care in the region.  An increasingly diverse population of families potentially at-risk for infants with sickle cell disease may not be aware of the risk due to community assumptions about the distribution of sickle cell trait. Improving the awareness of providers who provide such services that identify a broader group of patients at-risk is a critical step in sickle cell disease prevention.  Significant cultural and language barriers can impede access to a competent medical home for these groups as well.  Serving each of these target populations by identifying and supporting medical homes and communities in areas where sickle cell patients and their families choose to live and work is of critical importance in the region.

Native American Populations

Project Lead: Dr. Murray Brilliant

At the crossroads of medicine, molecular biology, biochemistry, and all other life sciences, genetics is wide-ranging and inherently interdisciplinary.  Genetics provides the fundamentals for the understanding of life, and it has profound implications for human health and economics.  Although the general public is aware of the importance of Genetics, there are misunderstandings leading to unjustified fears about genetics research, as well as a few publicized breaches of trust, leading to justified concerns regarding Genetics research.  This is especially an issue among Native American populations in the mountain states of Arizona, New Mexico, Montana and Utah.

A general lack of respect and sensitivity to the religious and cultural beliefs of the Native American peoples by some researchers and medical personnel has given the Native American population cause to not trust or believe information given to them by the American health system. Genetics raises it own set of questions and fears as it deals with DNA, a very sensitive issue for Native Americans.

The goal of the project is to increase knowledge about genetics and genetic services with the ultimate aim of improving access to genetics information and services in the region.  This will be accomplished through the development and implementation of consumer education and dialogue programs created specifically for and offered in locations accessible to the Native American population.

Genetics Policy and Education

Project Lead:  Liza Creel

In the Genetics Policy and Education project, the MSGRCC will focus on systemic issues impacting or affecting the genetic services delivery system.  Initial focus areas will be:

• The medical home
• Telemedicine
• Emergency Preparedness
• Family History

The project will educate local and state policy decision makers and other stakeholders (especially primary care providers) on implementation, models of care and relevant solutions affecting the genetic services delivery system in the Mountain States Region. 

Policy research, policy development and education provide an opportunity to identify solutions to address individual needs.  This process will include policy research to identify models of care, treatment effectiveness and cost-effectiveness of these models and inform policy makers and stakeholders of evidence-based policy solutions as well as best and promising practices.  Policy education forums (expected in year two), to have the most impact, must be provided not only to state policy makers but to all stakeholders and decision-makers in local jurisdictions and organizations.

We are also pleased to announce that MSGRCC has a new logo and will soon have a new website.

The MSGRCC is one of seven regional collaborative centers covering the nation. It is federally funded by the US Department of Health and Human Services, Health Resources and Services Administration (HRSA) Genetic Services Branch. The Mountain States Genetics Regional Collaborative Center includes the states of Arizona, Colorado, Montana, New Mexico, Nevada, Texas, Utah and Wyoming.

For more information on MSGRCC please contact Liza Creel, Program Manager, Texas Health Institute, lcreel@texashealthinstitute.org or call 512-279-3910.