CE Credit

Genetic Screening, Testing, Treatment, and Referral

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Welcome to the training on Genetic Screening, Testing, Treatment, and Referral provided by Texas Health and Human Services (HHS) and the Texas Department of State Health Services (DSHS).

Credit hours: 1.00 CE

Goal

The goal of this module is to equip Texas Health Steps providers and other health-care professionals to implement best practices and ethical guidelines for genetic clinical evaluation, referral, and ongoing care in a primary care practice.

Target Audience

Texas Health Steps providers and other interested health-care professionals.

Specific Learning Objectives

After completing the activities of this module, you will be able to:

  1. Distinguish between genetic screening and testing.
  2. Integrate practices to identify risk factors and warning signs that may warrant genetic testing or consultation.
  3. Interpret when it is ethically appropriate to refer a child for predictive genetic testing.
  4. Specify the primary care provider’s role in coordinating care for children with genetic disorders.

Please note this module expires on 5/25/2021.

Accreditation Statement

Disclosures

Audiovisual Library Collection

  • The Early Childhood Intervention collections of the Texas Department of State Health Services (DSHS) Audiovisual Library has a wide variety of materials about children who have disabilities or developmental delay, including:
    • Down Syndrome: First 18 Months (2nd ed.) - DD0561 DVD 108 min. 2010, adult audience. Organized around the newborn, health concerns, therapies, and new expectations, this DVD presents interviews with medical experts on Down syndrome and discussions with parents of children with Down syndrome. Language options available.
    • Expecting Adam: A True Story of Birth, Rebirth, and Everyday Magic - CA0040. 10 Compact Discs 780 min. 2011, Adult audience. This audiobook on CD tells the story of a mother expecting a baby with Down syndrome.

      For more information on borrowing either of these resources, call the DSHS Audiovisual Library at 512-776-7260 from 8 a.m. to 5 p.m. Monday through Friday, Central Time.

Family Medical History Questionnaires:

  • To download three free American Medical Association (AMA) questionnaires, visit the Family Medical History web page in the Genetics and Molecular Medicine section of Physician Resources. Note: You will be prompted to sign in or create an account before the download can occur.

Texas Health Steps Health History Form:

Genetics – Education for Primary Care Physicians

Genetics – General information:

For additional information about genetic referrals, visit the GeneReviews website, a medical genetic information source funded by the National Institutes of Health. 

As advances in medical genetics continue, primary care providers will need core skills to recognize clinical findings that indicate genetic risks as well as ongoing education to meet the challenges of genomic health care. The following list of resources provides information about medical genetics, genetic testing and research, hereditary conditions, genetic specialists, and patient services:

  • The National Human Genome Research Institute offers a wide range of genetic information, including articles for clinicians, continuing medical education opportunities, resources for patient management, updates on current research and policy issues, and a downloadable Genetics Home Reference Handbook.
  • The National Human Genome Research Institute also operates the Genetic and Rare Diseases Information Center, which provides experienced information specialists to answer questions in English or Spanish from consumers, health professionals, and biomedical researchers. The website includes information about clinical trials, financial assistance, and other resources for individuals with rare diseases.
  • GeneReviews is an online database of peer-reviewed disease descriptions, called chapters, authored by leading experts. Information covers the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. GeneReviews is published by the University of Washington with funding from the National Institutes of Health (NIH). Resources for patients and families are included in each chapter when available. 
  • The Centers for Disease Control and Prevention's (CDC) Office of Public Health Genomics website offers a weekly update on genomics and health; FAQs about the role of genomics in population research; and additional information about family health history, genetic testing, and genomic research.
  • The DSHS Genetics home page provides education about prenatal and pediatric genetics, definitions of genetic terms, and information about genetic diseases and syndromes.

The National Organization of Rare Disorders (NORD) provides information for people who have “orphan” diseases, that is, diseases that each affect fewer than 200,000 people in the United States. NORD provides referrals to support groups and other sources of assistance. The organization also maintains a database of free reports on rare diseases for patients, their families, and the public that may be downloaded from the NORD website.

  • The National Center for Hearing Assessment and Management at Utah State University provides information on diagnostic audiology, early intervention programs, and state-specific details for Early Hearing Detection and Intervention services.
  • The Genetics Home Reference provides information about genetic conditions and the genes or chromosomes responsible for those conditions. The staff of the U.S. National Library of Medicine develops content.
  • The Genetic Alliance is an international coalition of more than 1,000 advocacy, research, and health-care organizations. The website provides information about genetic advocacy, genetic policy, and other resources.
  • The Surgeon General’s Family History Initiative is a national public health campaign sponsored by the U.S. Department of Health and Human Services. The website includes guidelines to help patients organize family history information.

Genetic Screening and Testing

Locating Geneticists for Referrals

Search for geneticists and genetic clinics in Texas:

  1. The Texas Department of State Health Services’ (DSHS) Genetics Provider web page includes a list of genetic clinics in different regions of Texas. 
  2. The Texas Medical Association (TMA) provides a Find a Physician search feature for locating genetic professionals by physician name, specialty, city, county, or ZIP code. 
  3. The Texas Medicaid & Healthcare Partnership (TMHP) Online Provider Lookup web page offers online searches of doctors, hospitals, and other health-care providers.

Referral forms: 

The AAP’s National Center for Medical Home Implementation offers a referral form for medical home providers that can be used for genetic referrals. 

Medical Interpreters:

Referring Children and Families for Additional Services:

  • Information about referring patients to the Case Management for Children and Pregnant Women program in Texas is available at the DSHS website. 
  • To refer families for Early Childhood Intervention services, health-care providers can call Texas Health and Human Services’ Office of the Ombudsman at 877-787-8999, select a language, and then select Option 3. Providers can also submit a referral online. For additional information, providers can visit HHS’s ECI website. Those with hearing impairments can use the relay option of their choice or dial 7-1-1 to connect with Relay Texas.
  • Information about referring patients to the Children with Special Health Care Needs (CSHCN) Services Program in Texas is available at the CSHCN Services Program web page.

Texas Department of State Health Services Resources

Texas Health Steps Child Health Clinical Record Forms

Texas Health Steps Developmental Surveillance and Screening Tools

  • Ages and Stages Questionnaire (ASQ)
  • Ages and Stages Questionnaire: Social Emotional (ASQ:SE)
  • Parents' Evaluation of Developmental Status (PEDS)
  • Modified Checklist for Autism in Toddlers (M-CHAT or M-CHAT-R/F) for ASD screening at 18 months and again at 24 months of age. 

The forms are available on the Texas Health Steps Provider Forms web page.

Reporting Abuse and Neglect

To report child abuse or neglect in Texas:

  • Call the 24-hour toll-free DFPS abuse hotline at 800-252-5400.
  • Or make a report online on the DFPS reporting website

Helpful Resources to Share with Patients and Families

The medical definitions in this module were obtained or adapted from the American Pregnancy Association, International 22q11.2 Foundation, Inc., the International Rett Syndrome Foundation, the March of Dimes, the Mayo Clinic, Medicaid, the National Institute of Neurological Disorders and Stroke in the National Institutes of Health, the Prader-Willi Syndrome Association, and the U.S. National Library of Medicine.