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).
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:
- Distinguish between genetic screening and testing.
- Integrate practices to identify risk factors and warning signs that may warrant genetic testing or consultation.
- Interpret when it is ethically appropriate to refer a child for predictive genetic testing.
- Specify the primary care provider’s role in coordinating care for children with genetic disorders.
Please note this module expires on 5/5/2024.
This module was released on 5/5/2021.
Accreditation Statement
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 1.25 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 1.25 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 1.25 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 1.25 professional development hours and 1.25 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 1.25 hours of credit and 1.25 hours in professional ethics.
Certificate of Attendance
The Texas Department of State Health Services, Continuing Education Service has designated 1.25 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 1.25 contact hour(s) of continuing education for Certified Community Health Workers and Community Health Worker Instructors.
Disclosures
One of the requirements of continuing education is disclosure of the following information to the learner:
- 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.
- Commercial Support.
The THSTEPS Web-based Continuing Education Series has received no commercial support. - Disclosure of Relevant Financial Relationships.
The THSTEPS Continuing Education Planning Committee and the authors of these modules have no relevant financial relationships to disclose. - 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. - 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).
Browser Requirements
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.
Audiovisual Library Collection
- HHS’s ECI Library Collection offers 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 Collecting a Family History web page.
- Centers for Disease Control and Prevention. (2020). Family Health History. Family Health History Resources for Health Professionals.
Texas Health Steps Health History Form:
- Download Texas Health Steps form ECHR-1, “Birth Through 20 Years Checkup Child Health Record” from the Texas Health Steps Resource Catalog.
Genetics – Education for Primary Care Physicians
- American Academy of Pediatrics, Committee on Genetics. (2013). Medical Genetics in Pediatric Practice. eBook, R. A. Saul, editor.
- Ferreira, C. R., Regier, D. S., Hadley, D. W., & Hart, P. S. (2017). Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease. Molecular Genetics & Genomic Medicine, 5: 307-316.
- Genetics in Primary Care Institute. Web page about its mission to increase primary care provider knowledge and skills in providing genetic-based services.
- Kemper, A. R., Trotter, T. L., Lloyd-Puryear, M.A., Kyler, P., Feero, W. G., & Howell, R. R. (2010). A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: Recommendations of the United States Secretary for Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children. Genetics in Medicine, 12(2), 77-80.
- Regier, D. S., Ferreira, C. R., Hart, S., Hadley, D. W., & Muenke, M. (2017). Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries. Molecular Genetics & Genomic Medicine, 5(6): 621-630.
- This 90-second video from the Genetics in Primary Care Institute features Tracy Trotter, MD, FAAP discussing why it’s so important for the pediatric primary care provider to be knowledgeable about genetic medicine.
Genetics – General information:
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.
- The U.S. National Library of Medicine’s online MedlinePlus Genetics offers information on more than 1,300 genetic conditions and 1,400 genes.
- 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 free and 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) Genomics & Precision Health Weekly Update 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 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 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 web page 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 CDC’s Family Health 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
- Mayo Clinic. Genetic Testing website provides an overview of genetic testing, why it is done and the different types of genetic testing.
- View and download the AAP’s (2013/2018) "Ethical and Policy Issues in Genetic Testing and Screening of Children" policy statement in its entirety. View and download the corresponding technical report.
Locating Geneticists for Referrals
Search for geneticists and genetic clinics in Texas:
- The Texas Department of State Health Services (DSHS) Genetics Provider web page includes a list of genetic clinics in different regions of Texas.
- 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.
- The Texas Medicaid & Healthcare Partnership (TMHP) Online Provider Lookup web page offers online searches of doctors, hospitals and other health-care providers.
Referral forms:
- Texas Health Steps Referral Form. Find it in the Texas Medicaid Provider Procedures Manual (TMPPM), Children’s Services Handbook under “Forms.”
Medical Interpreters:
- Information about telephone interpreting and trained medical interpreters is available at the International Medical Interpreters Association.
- Information on certification for medical interpreters is available at the National Board of Certification for Medical Interpreters. More information about interpreting services may also be found at the American Translators Association and the Registry of Interpreters for the Deaf.
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 on the HHSC website.
- To refer families for Early Childhood Intervention services, health-care providers should use the ECI Physician Referral Form, which can be downloaded from HHSC. The form includes a link to an online directory of local ECI programs.
- 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.
Additional Resources from the Texas Department of State Health Services (DSHS), the Texas Health and Human Services Commission (HHSC) and Others
- Texas Department of State Health Services. Genetic Services. When Does A Child Need Genetic Services?
- Texas Department of State Health Services. Genetics.
- Texas Department of State Health Services. Minor Anomalies.
- Texas Department of State Health Services. Newborn Screening Laboratory (NBS).
- Texas Department of State Health Services. Newborn Screening video for health-care providers about the follow-up process for out-of-range screen results.
- Texas Health and Human Services Commission. Texas Health Steps Periodicity Schedule.
- Texas Health and Human Services Commission. Texas Health Steps.
- Texas Health and Human Services Commission. Texas Health Steps Forms, including developmental surveillance and screening forms.
- Texas Medicaid & Healthcare Partnership. Texas Medicaid Provider Procedures Manual.
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.
Texas Health Steps Child Health Clinical Record Forms (click on Medical Checkups).
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.
- American Academy of Pediatrics, AAP Health Initiatives. (n.d.). Genetics in Primary Care Institute (GPCI).
- American Academy of Pediatrics, AAP News. (2016) Pediatricians and the Law: What does law require of physicians caring for patients with limited English proficiency?
- American Academy of Pediatrics, Committee on Bioethics, Committee on Genetics, & the American College of Medical Genetics and Genomics Social, Ethical, and Legal Issues Committees. (2013/2018). Policy Statement: Ethical and Policy Issues in Genetic Testing and Screening of Children. Pediatrics, 131(3), 620-622 and Pediatrics, 142(3), e20181836.
- American Academy of Pediatrics, Committee on Genetics. (2013). Medical Genetics in Pediatric Practice. eBook, R. A. Saul, editor.
- American Academy of Pediatrics, Committee on Pediatric Workforce. (2013/2015). Enhancing Pediatric Workforce Diversity and Providing Culturally Effective Pediatric Care: Implications for Practice, Education, and Policy Making. Pediatrics, 132(4), e 1105-e1116. DOI: https://doi.org/10.1542/peds.2013-2268.
- American Academy of Pediatrics, AAP News. (2013). Consider culture, language when caring for children in immigrant families.
- American Academy of Pediatrics. Culturally Effective Care Toolkit.
- American Academy of Pediatrics. (2004/2008). Ensuring Culturally Effective Pediatric Care: Implications for Education and Health Policy. Pediatrics, 122(2): 450.
- American Academy of Pediatrics, National Resource Center for Patient/Family-Centered Medical Home. (n.d.).
- American Board of Medical Genetics. (n.d.). Medical Genetics and Genomics.
- American Translators Association. (2018). ATA Certification Program.
- Annie E. Casey Foundation, Kids Count Data Center. (2016). Children in Immigrant Families.
- Borry, P., Evers-Kiebooms, G., Cornel, M. C., Clarke, A., & Dierickx, K. (2009). Genetic testing in asymptomatic minors: Background considerations towards ESHG Recommendations. European Journal of Human Genetics, 17(6), 711–719.
- Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., Levy, H. P., Ormond, K. E., Saal, H. M, Spinner, N. B., Wilfond, B. S., & McInerney, J. D. (2015). Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. The American Journal of Human Genetics, 97(1):6-21.
- Centers for Disease Control and Prevention. (2020). Genomics & Precision Health.
- Centers for Disease Control and Prevention. (2020). Family Health History.
- Centers for Disease Control and Prevention. (2017). PRAMS Questionnaires.
- Centers for Disease Control and Prevention. (2017). Safety and Children with Disabilities: Childhood Maltreatment Among Children with Disabilities.
- Doerr, M. & Teng, K. (2012). Family history: Still relevant in the genomics era. Cleveland Clinic Journal of Medicine, 79(5), 331-336.
- European Society of Human Genetics. (2009). Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics. European Journal of Human Genetics, 17(6), 720–721.
- Ferreira, C. R., Regier, D. S., Hadley, D. W., & Hart, P. S. (2017). Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease. Molecular Genetics & Genomic Medicine, 5: 307-316.
- GeneReviews. (2021.)
- Genetic Alliance. (n.d.). About Genetic Alliance.
- Grebe, T. A., Khushf, G., Chen, M. Bailey, D., Brenham, L. M., Williams, M. S., Seaver, L. H., & ACMG Social, Ethical and Legal Issues Committee. (2020). ACMG Statement: The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 22(9), 1431–1436.
- Harding, B., Webber, C., Ruhland, L., Dalgarno, N., Armour, C. M., Birtwhistle, R., Brown, G., Carroll, J. C., Flavin, M., Phillips, S., & MacKenzie, J. J. (2019). Primary care providers' lived experiences of genetics in practice. Journal of Community Genetics, 10(1), 85–93.
- Hull, L. E., Gold, N. B., & Armstrong, K.A. (2020). Revisiting the Roles of Primary Care Clinicians in Genetic Medicine. JAMA, Sept. 24. (Epub ahead of print.)
- Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., . . . Miller, D. T. (2016). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 19(2):249-255. (Epub Nov. 17).
- McCandless, S. E., Brunger, J. W., & Cassidy, S. B. (2004). The burden of genetic disease on inpatient care in a children's hospital. American Journal of Human Genetics, 74(4), 121-7. [Abstract].
- National Board of Certification for Medical Interpreters. (2017). History.
- National Center for Hearing Assessment and Management. (1999-2021).
- National Human Genome Research Institute. (2018). Genetic and Rare Diseases Information Center.
- Ragavan, M. I., & Cowden, J. D. (2018). The Complexities of Assessing Language and Interpreter Preferences in Pediatrics. Health Equity, 2(1):70-73.
- Ross, L. F., Saal, H. M., David, K. L., Anderson, R. R., the American Academy of Pediatrics, & American College of Medical Genetics and Genomics. (2013). Technical report: ethical and policy issues in genetic testing and screening of children. Genetics in Medicine, (15), 234–245.
- Saul, R. A., Trotter, T., Sease, K., & Tarini, B. (2017). Survey of family history taking and genetic testing in pediatric practice. Journal of Community Genetics, 8(2):109-115. [Abstract]
- The Joint Commission. (2014). A Crosswalk of the National Standards for Culturally and Linguistically Appropriate Services (CLAS) in Health and Health Care to The Joint Commission Hospital Accreditation Standards.
- Trotter, T. L. & Martin, H. M. (2007). Family History in Pediatric Primary Care. Pediatrics, 120(S60).
- U.S. Government Accountability Office. (2020). Genetic Service: Information on Genetic Counselor and Medical Geneticist Workforces.
- University of Texas Health Science Center at Houston. (2021). MotherToBaby, (teratogen information).
- Urban Institute. (2019). Part of Us: A Data-Driven Look at Children of Immigrants.
- U.S. Department of Health and Human Services. (2017). How Many Newborns are Screened in the United States?
- U.S. Department of Health and Human Services, Health Resources and Services Administration. (2018). EPSDT Overview.
- Whelan, A. J., Ball, S., Best, L., Best, R. G., Echiverri, S. C., Ganschow, P., . . . Stallworth, J. (2004). Genetic red flags: Clues to thinking genetically in primary care practice. [Abstract]. Primary Care: Clinics in Office Practice, 31(3), 497–508.
- Disease InfoSearch: Patients and families can use this resource to learn more about the signs and symptoms of conditions, the latest research, and how to access support.
- The Genetics Home Reference web page provides information about genetic conditions and the genes or chromosomes responsible for those conditions. Patients can look up information about the effects of genetic variations on human health.
- National Human Genome Research Institute. Patients can find a listing of online tools for generating a family history.
- National Human Genome Research Institute. What Are Genetic Disorders?
- National Organization of Rare Diseases (NORD).
- Texas Health and Human Services Commission. Case Management for Children and Pregnant Women.
- Texas Health and Human Services Commission. Children with Special Health Care Needs (CSHCN) Services Program.
- Texas Health and Human Services Commission. Early Childhood Intervention audiovisual collections.
- Texas Health and Human Services Commission. Early Childhood Intervention Services.
- Texas Department of State Health Services. Genetics.
- Texas Health and Human Services Commission. Texas Health Steps.
- The CDC’s Family Health 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.
- University of Texas Health Science Center at Houston. MotherToBaby Texas TIPS (Texas Teratogen Information in Pregnancy).
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.
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