Spring 2013 Newsletter


Genetics to Genomics: The Future and Beyond!

  • June 22, 2013: Dallas at the Westin Galleria
  • June 29, 2013: Austin at the AT&T Conference Center
  • July 13, 2013: San Antonio at the Grand Hyatt

Tens of thousands of Texas babies are born each year with genetic disorders. Attend the FREE Genetics Conference 2013 to learn about advances in genetics and genomics, including clinical implications of whole exome and genome sequencing. Topics will include when to test, the impact on patients, ethical dilemmas and more.

This activity has been approved for AMA PRA Category 1 Credit(s)TM.

Visit the Conference website for information on continuing education for nurses and physicians.

According to the Centers for Disease Control, genomics is a term that describes the study of all the genes in a person, as well as interactions of those genes with each other and with that person’s environment. Why is it important to know this? Full genome sequencing is becoming more and more common as testing costs go down. Clinicians need to know why and when to order these tests, and what the tests can and cannot do for their patients. Clinicians need to be prepared for test results that raise ethical dilemmas.

Attend the conference to explore and learn more about these issues.
Register or Questions? Amanda Martinez 512-474-2166.

Phenylketonuria (PKU) & Galactosemia (GALT)

Newborn Screening (NBS) is an essential, public health program that identifies conditions that can lead to catastrophic health problems and death in untreated newborns.

The goal of the Texas NBS Program is to ensure:

  • Each baby born in Texas receives newborn screening;
  • All screens outside of normal limits receive prompt and appropriate follow up;
  • Early identification and treatment of the affected infant; and
  • All newborns diagnosed with a NBS condition are maintained on appropriate medical therapy.

Identifying Texas newborns at risk requires coordinated efforts from:

  • Hospitals
  • Parents;
  • Primary Care Providers;
  • DSHS Laboratory;
  • Medical Specialist/Specialty Care Centers; and
  • DSHS Clinical Care Coordination.

The DSHS Laboratory screens for 29 disorders. PKU and GALT are considered legacy conditions, that is, conditions that have been screened for in Texas prior to the expansion of newborn screening in 2006.

Phenylketonuria (PKU) - In 1963, Dr. Robert Guthrie sent a letter to state laboratories inquiring about their interest in screening nursery infants for PKU using an “inhibition assay” technique (small bloodspot sampling). A trial screening of newborns for PKU prior to hospital discharge was initiated in May 1963, and actual testing began in September 1963. Trials were completed with 39 cases detected out of 400,000 infants screened. Texas participated in this pilot and tested 85,000 specimens, with eight confirmed cases. PKU was the first condition regularly screen by the Texas Department of Health Laboratory in 1965.

PKU is an autosomal recessive condition that is characterized by a deficiency of the enzyme phenylalanine hydroxylase (PAH). Phenylalanine is an amino acid that is present in proteins found in many food sources. The enzyme is essential to metabolize the amino acid phenylalanine (PHE) to the amino acid tyrosine. When PAH is deficient, PHE accumulates and leads to problems with brain development. Adherence to a low protein PKU diet affords positive outcomes and prevents cognitive impairment.

Galactosemia (GALT) - Screening for GALT began in Texas in 1979. GALT is an inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which leads to an inability to convert galactose (a sugar) to glucose, a major source of energy. Galactose is a component of lactose, which is present in breast milk and many infant formulas. An untreated infant can develop vomiting, diarrhea, lethargy, jaundice and liver damage and possibly death within a few days to two weeks.

Celebrate the 50th Anniversary of Newborn Screening!

NBS Poster

Fifty years ago, newborn screening in the United States began when Dr. Robert Guthrie developed a simplified test for phenylketonuria (PKU). The impact of that first, life-altering newborn screen test, led to the launch of Newborn Screening Programs in each state across the nation. Since then, tests for many new disorders have been added to each state’s panel. Newborn screening can make a tremendous difference in the health outcome for a child. Finding and treating these disorders early can prevent serious complications, such as growth problems, developmental delays, deafness, blindness, intellectual disabilities, seizures, and sudden or early death. Texas screens for 29 disorders using dried bloodspots. Severe Combined Immunodeficiency (SCID) was added to the Texas panel in December 2012. In addition, Texas newborns are screened in birthing facilities for hearing loss.

The Association of Public Health Laboratories (APHL) has chosen Texas as one of the states participating in a 13-state tour of its traveling newborn screening display that illustrates the history and highlights the public health impact of newborn screening. The schedule for the APHL display in Austin:

Newborn Screening Laboratory

Newborn Screening Laboratory, DSHS Central Campus - 1100 W. 49th Street

May 13 - 14, 2013

Bernstein Building -DSHS Central Campus, 1100 W. 49th Street

May 15, 2013

DSHS -Travis Building,
1701 N. Congress

May 16 - May 18, 2013

TX State Capitol,
Ground Floor Rotunda

May 19 - 24, 2013

For additional NBS information:
Association of Public Health Laboratories: Newborn Screening
Save Babies through Screening Foundation
Baby’s First Test
Centers for Disease Control and Prevention

In Memoriam - Mary Gwyn Allen

Staff of the Newborn Screening Unit and Texas Early Hearing Detection and Intervention (TEHDI) Team are saddened by the death of Mary Gwyn Allen who passed away January 28, 2013. Mary Gwyn’s contributions in program development, education, outreach and research in the area of hearing screening for infants and children were numerous. Since 2009, Mary Gwyn served as the statewide coordinator for the TEHDI Program, providing subject matter expertise and coordination of program activities. The NBS staff will remember her unwavering dedication to the TEHDI Program. Mary Gwyn’s presence and contributions will be missed.

Grant Awarded to NBS Hearing Program

The Department of State Health Services (DSHS) Texas Early Hearing Detection and Intervention (TEHDI) Program is pleased to announce the receipt of a third-year notice of grant award from the Health Resources and Services Administration (HRSA). The HRSA funding will support the TEHDI Program in its efforts in providing education to hearing stakeholders throughout Texas.

The funds support initiatives that:

  • Improve the functionality of the TEHDI Management Information System by working with audiologists to explore strategies for reporting and accessing services for babies with hearing loss;
  • Provide pediatric audiology outreach to improve relationships with audiologists that diagnose newborns;
  • Continue supporting the National Initiative for Children’s Healthcare Quality (NICHQ) collaborative by providing leadership in developing quality improvement studies; and
  • Collaborate with partners to sponsor a 2013 TEHDI Summit which will provide information, opportunities to exchange ideas and education to providers and parents.

Additional information regarding the TEHDI Program.

Welcome New Staff to the NBS Unit

Susan Bloodgood - NBS Unit Coordinator
Denise Tenney RN - Cystic Fibrosis
Linda Nardo RN - Congenital Hypothyroidism
Kim LaBoard RN - Severe Combined Immune Deficiency (SCID)
Sacramento Mejia - SCID Public Health and Prevention Specialist
Irma Hernandez - Administrative Assistant

The Medical Director’s Corner
Dr. Freedenberg

Since January 2009, Dr. Debra Freedenberg has been the Medical Director in the Newborn Screening Unit. Dr. Freedenberg is board certified in Pediatrics, Clinical Genetics, Medical Biochemical Genetics, and Clinical Molecular Genetics. Under her leadership and direction, the program has established numerous educational activities:

  • NBS Grand Rounds - presentations from prominent experts in the field of NBS. Among the presenters were:
    • Dr. George Buchanan, University of Texas Southwestern Medical Center, Long-Term Outcome of Babies Born in Texas with Sickle Cell Disease.
    • Dr. Susan Berry, University of Minnesota, Long-Term Follow-Up After Newborn Screening: Inborn Errors of Metabolism Collaborative.
  • Tales from the Crib is a forum for clinical case review.
  • NBS Journal Club provides an opportunity for DSHS staff to discuss current literature relevant to NBS.
  • Through participation in national committees, Dr. Freedenberg’s knowledge and commitment has established the DSHS NBS Program as a prominent leader in the field of NBS. Dr. Freedenberg currently serves on:

American Academy of Pediatrics. (Committee on Genetics);
Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; (Invited expert on Treatment and Long-term Follow-up Subcommittee);
Newborn Screening Translational Research Network (Clinical Integration Committee); and
Clinical and Laboratory Standards Institute; (NBS Review Committee).

In addition, Dr. Freedenberg has worked diligently to establish an annual (2011, 2012, 2013) statewide Genetics Conference. Dr. Freedenberg is a liaison to the state medical community and will be a regular newsletter contributor through the Medical Director’s Corner.

Annual Early Hearing Detection & Intervention (EHDI) Meeting
April 14-16, 2013 Glendale, AZ

Texas Early Hearing Detection and Intervention (TEHDI) staff recently attended the 12th Annual EHDI Meeting. The meeting is sponsored by the American Academy of Pediatrics, the US Department of Health and Human Services: Centers for Disease Control and Prevention, Health Resources and Services Administration, and the National Center for Hearing Assessment & Management at Utah State University. The meeting drew approximately 1,000 attendees representing EHDI programs from all over the country. Plenaries were organized to support open dialogue among state stakeholders. Attendees shared successful strategies for implementing comprehensive state-based EHDI programs that include screening, audiologic diagnostic screening, early intervention, medical home, reporting, tracking, surveillance, loss-to-follow-up issues, and data integration and other related surveillance components.

A conference goal was to enhance and create new and ongoing working relationships among federal, state, non-profit , educational, advocacy groups, families and professionals. Current research and research methods were discussed as they relate to hearing detection and intervention. The TEHDI staff networked with other state programs and made valuable connections. The EHDI meeting was a success and staff returned with new ideas and projects for the TEHDI program.

Last updated April 03, 2014