CE/CME

Genetic Screening, Testing, Treatment and Referral

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

Credit Hours: 1.00 CE

Enroll

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 4/12/2027.

This module was released on 4/12/2024.

Featured

Definitions

The medical definitions in this module were obtained or adapted from the American Pregnancy Association, Genetic and Rare Diseases Information Center at the U.S. Department of Health and Human Services, International 22q11.2 Foundation, Inc., International Rett Syndrome Foundation, International Scholarly Research Notices, March of Dimes, Mayo Clinic, Medicaid, National Institute of Neurological Disorders and Stroke in the National Institutes of Health, Prader-Willi Syndrome Association and the U.S. National Library of Medicine.

Continuing Medical Education (Ethics Accredited)

The Texas Department of State Health Services, Continuing Education Service is accredited by the Texas Medical Association to provide continuing medical education for physicians.

The Texas Department of State Health Services, Continuing Education Service designates this enduring material for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course has been designated by The Texas Department of State Health Services, Continuing Education Service for 1.00 credit(s) of education in medical ethics and/or professional responsibility.

Continuing Nursing Education

The Texas Department of State Health Services, Continuing Education Service is accredited as a provider of continuing nursing education by the American Nurses Credentialing Center’s Commission on Accreditation. The Texas Department of State Health Services, Continuing Education Service has awarded 1.00 contact hour(s) of Continuing Nursing Education.

Licensed Psychologists (Ethics Accredited)

The Texas Department of State Health Services, Continuing Education Service is approved as a provider of professional development hours for licensed psychologists, per the Texas Administrative Code Rule §463.35 (f)(1). The Texas Department of State Health Services, Continuing Education Service has awarded 1.00 professional development hours and 1.00 hours in professional ethics.

Social Workers (Ethics Accredited)

The Texas Department of State Health Services, Continuing Education Service, the continuing education provider, ensures that the education provided is directly related to the practice of social work; and that the individuals presenting the information have the necessary experience and knowledge in the topics presented. The Texas Department of State Health Services, Continuing Education Service has awarded 1.00 hours of credit and 1.00 hours in professional ethics.

Certificate of Attendance

The Texas Department of State Health Services, Continuing Education Service has designated 1.00 hour(s) for attendance.

Certified Community Health Worker

The Texas Department of State Health Services, Promotor(a)/Community Health Worker Training and Certification Program has certified this course for 1.00 contact hour(s) of continuing education for Certified Community Health Workers and Community Health Worker Instructors.

General Disclosure

One of the requirements of continuing education is disclosure of the following information to the learner:

  1. Notice of requirements for successful completion of continuing education activity. To receive continuing education credit the learner must successfully complete the following activities:
    • Create a Texas Health Steps account.
    • Complete on-line registration process.
    • Thoroughly read the content of the module.
    • Complete the on-line examination.
    • Complete the evaluation.
  2. Commercial Support.
    The THSTEPS Web-based Continuing Education Series has received no commercial support.
  3. Disclosure of Relevant Financial Relationships.
    The THSTEPS Continuing Education Planning Committee and the authors of these modules have no relevant financial relationships to disclose.
  4. Non-Endorsement Statement.
    Accredited status does not imply endorsement of any commercial products or services by the Department of State Health Services, Continuing Education Service; Texas Medical Association; or American Nurse Credentialing Center.
  5. Off-Label Use.
    Using a disclosure review process, the THSTEPS Continuing Education Planning Committee has examined documents and has concluded that the authors of these modules have not included content that discusses off-label use (use of products for a purpose other than that for which they were approved by the Food and Drug Administration).

The following are policies and definitions of terms related to continuing education disclosure:

The intent of disclosure is to allow Department of State Health Services (DSHS) Continuing Education Service the opportunity to resolve any potential conflicts of interest to assure balance, independence, objectivity and scientific rigor in all of its Continuing Education activities.

All faculty, planners, speakers and authors of Department of State Health Services (DSHS) Continuing Education Service sponsored activities are expected to disclose to the Department of State Health Services (DSHS) Continuing Education Service any relevant financial, relationships with any commercial or personal interest that produces health care goods or services concerned with the content of an educational presentation. Faculty, planners, speakers and authors must also disclose where there are any other potentially biasing relationships of a professional or personal nature.

Glossary of Terms

Conflict of Interest: Circumstances create a conflict of interest when an individual has an opportunity to affect Continuing Education content about products or services of a commercial interest with which she/he has a financial relationship or where there are any other potentially biasing relationships of a professional or personal nature.

Commercial Interest: Any entity producing, marketing, re-selling, or distributing health care goods or services consumed by, or used on, patients.

Financial Relationships: Those relationships in which the individual benefits by receiving a salary, royalty, intellectual property rights, consulting fee, honoraria, ownership interest (e.g., stocks, stock options or other ownership interest, excluding diversified mutual funds), or other financial benefit. Financial benefits are usually associated with roles such as employment, management position, independent contractor (including contracted research), consulting, teaching, membership on advisory committees or review panels, board membership, and other activities for which remuneration is received or expected. Relevant financial relationships would include those within the past 12 months of the person involved in the activity and a spouse or partner. Relevant financial relationships of your spouse or partner are those of which you are aware at the time of this disclosure.

Off Label: Using products for a purpose other that that for which it was approved by the Food and Drug Administration (FDA).

Texas Health Steps courses are best viewed using a current browser. If you are using an out-of-date browser or a version of Internet Explorer less than 11, lesson progress and interactive features may not function properly.

Health-Care Providers

Family Medical History Questionnaires

Genetics – Education for Primary Care Physicians

Genetics – General information

  • Centers for Disease Control and Prevention. (2022). Birth Defects Surveillance Toolkit.
  • Centers for Disease Control and Prevention. (2023). Family Health History provides guidelines to help patients organize family history information.
  • Centers for Disease Control and Prevention. Public Health Genomics and Precision Health Knowledge Base (v9.0). (2024). Genomics and Precision Health Update 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.
  • GeneReviews is an online database of peer-reviewed disease descriptions authored by leading experts. Information covers the diagnosis, management and genetic counseling of patients and families with specific inherited conditions.
  • The Genetic Alliance provides information about genetic advocacy, genetic policy and other resources.
  • 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. It 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.
  • National Organization of Rare Disorders (NORD) provides information and referrals for individuals with “orphan” diseases, which is defined as diseases that each affect fewer than 200,000 people in the United States.
  • Texas Department of State Health Services. Genetics home page provides education about prenatal and pediatric genetics, definitions of genetic terms and information about genetic diseases and syndromes.
  • The U.S. National Library of Medicine’s online MedlinePlus Genetics offers information on more than 1,300 genetic conditions and 1,400 genes.

Genetic Screening and Testing

  • The Genetics Policy Hub Pediatric Genetic Testing shares information about genetics policy across the United States. Tracked information ranges from how state and federal governments and agencies support the delivery of genetics to general resources on a wide range of topics that affect the delivery of care.
  • Mayo Clinic. Genetic Testing provides an overview of genetic testing, why it is done and the different types of genetic testing.

Locating Geneticists for Referrals

  • The Texas Department of State Health Services Genetics Provider List provides contact information for genetic clinics in regions across Texas.
  • The Texas Medical Association provides a Find a Physician search feature for locating genetic professionals by physician name, specialty, city, county or ZIP code.
  • The Texas Medicaid & Healthcare Partnership Provider Search offers online searches of doctors, hospitals and other health-care providers.
  • Referral forms for Texas Health Steps patients are available in the Texas Medicaid Provider Procedures Manual Children’s Services Handbook under “Forms.”

Medical Interpreters

Referring Children and Families for Additional Services

Texas Health Steps Resources

Reporting Abuse and Neglect

To report child abuse or neglect in Texas, make a report online on the Texas Department of Family and Protective Services Texas Abuse Hotline Website or call the 24-hour toll-free DFPS abuse hotline at 800-252-5400.

Helpful Resources to Share with Patients and Families