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
EnrollTo enroll in this course, please log in or create a new account if you are not already registered.
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 4/12/2027.
This module was released on 4/12/2024.
Featured
- American Academy of Pediatrics. (2023). AAP News. Research Update. Pediatricians report 18.5% of patient families have limited proficiency with English.
- American Academy of Pediatrics, Committee on Genetics. (2013). Medical Genetics in Pediatric Practice. eBook, R. A. Saul, editor.
- American Academy of Pediatrics. Policy Statement. (2013, reaffirmed 2018). Committee on Bioethics; Committee on Genetics; The American College of Medical Genetics; Genomics Social; Ethical; and Legal Issues Committee. Ethical and Policy Issues in Genetic Testing and Screening of Children. Pediatrics, 131(3):620-622.
- American Academy of Pediatrics. Policy Statement. (2013/reaffirmed 2015 and 2022). Committee on Pediatric Workforce, Beth A. Pletcher, Mary Ellen Rimsza, William T. Basco, Andrew J. Hotaling, Ted D. Sigrest, Frank A. Simon. Enhancing Pediatric Workforce Diversity and Providing Culturally Effective Pediatric Care: Implications for Practice, Education, and Policy Making. Pediatrics, October 2013; 132(4): e1105–e1116.
- American Academy of Pediatrics. Robert Saul, Chairperson Committee on Genetics; Co-Chairperson Genetics in Primary Care Institute (n.d.). Genomic Medicine Working Group Meeting.
- American Academy of Pediatrics. HealthyChildren.org. (2015). Your Family Health History & Genetics.
- American Board of Medical Genetics and Genomics. (2017). Training Options.
- American Board of Medical Specialties. American Board of Medical Genetics and Genomics. (n.d.). Medical Genetics and Genomics.
- Beauchesne R, Birch P; GenCOUNSEL Study; Elliott A. (2023). Genetic counselling resources in non-english languages: A scoping review. National Library of Medicine, PEC Innov. Feb 13;2:100135.
- 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. National Library of Medicine, The American Journal of Human Genetics. 97(1):6-21. Erratum. (2015) The American Journal of Human Genetics. Sep 3;97(3):501.
- Centers for Disease Control and Prevention. (2021). Newborn Screening Portal.
- Centers for Disease Control and Prevention. Safety and Children with Disabilities. (2019). Childhood Maltreatment among Children with Disabilities.
- 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. ACMG Statement. (2020). 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 CM, Birtwhistle R, Brown G, Carroll JC, Flavin M, Phillips S, MacKenzie JJ. (2019). Primary care providers’ lived experiences of genetics in practice. J Community Genet. 10(1):85–93.
- Hull LE, Gold NB, Armstrong KA. (2020). Revisiting the Roles of Primary Care Clinicians in Genetic Medicine. JAMA. 324(16):1607–1608.
- Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale SJ, Chung WK, Gollob MH, Harrison SM, Herman GE, Hershberger RE, Klein TE, McKelvey K, Richards CS, Vlangos CN, Stewart DR, Watson MS, Martin CL; ACMG Secondary Findings Working Group. (2021). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 23(8):1391-1398.
- Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL; ACMG Secondary Findings Working Group. (2022). ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 24(7):1407-1414.
- National Society of Genetic Counselors Executive Summary. (2021). 2021 Professional Status Survey. Chicago, IL.
- Ragavan MI, Cowden JD. (2018). The Complexities of Assessing Language and Interpreter Preferences in Pediatrics. Health Equity. 2(1):70-73.
- Ross, L., Saal, H., David, K. et al. (2013). Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med. 15, 234–245.
- Saul RA, Trotter T, Sease K, Tarini B. (2107). Survey of family history taking and genetic testing in pediatric practice. J Community Genet. 8(2):109–15.
- Taber P, Ghani P, Schiffman JD, Kohlmann W, Hess R, Chidambaram V, Kawamoto K, Waller RG, Borbolla D, Del Fiol G, Weir C. (2020). Physicians' strategies for using family history data: having the data is not the same as using the data. JAMIA Open. 3(3):378-385.
- Texas Department of Family and Protective Services. Texas Abuse Hotline Website.
- Texas Health and Human Services Commission. Texas Department of State Health Services. Genetics.
- Texas Health and Human Services Commission. Texas Department of State Health Services. Newborn Screening Laboratory.
- Texas Health and Human Services Commission. Texas Department of State Health Services. Newborn Screening Program.
- Texas Health and Human Services Commission. Medical Providers. Texas Health Steps Medical Checkup Periodicity Schedule.
- Urban Institute. (2019). Part of Us: A Data-Driven Look at Children of Immigrants.
- U.S. Food & Drug Administration. FDA News Release. (2023). FDA Approves First Gene Therapies to Treat Patients with Sickle Cell Disease.
- U.S. Government Accountability Office Report to Congressional Committees. (2020). Genetic Services. Information on Genetic Counselor and Medical Geneticist Workforces. GAO-20-593.
- Wiener RC. (2022). Newborn genetic testing in the United States and access to needed specialist care, National Survey of Children's Health, 2020: A cross-sectional study. PLOS One. 17(12):e0279352.
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:
- 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).
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Health-Care Providers
Family Medical History Questionnaires
- American Medical Association. Collecting a Family History.
- Centers for Disease Control and Prevention. (2020). 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 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.
- 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.
- Nemours KidsHealth. (2022). Ear Pits.
- 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.
- Texas Children’s Hospital Cancer Genetics Clinic. (n.d.). Cancer Genetics Clinic Frequently Asked Questions.
- U.S. Department of Labor. Office of the Assistant Secretary for Administration & Management. The Genetic Information Nondiscrimination Act of 2008: “GINA”.
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
- 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, Inc.
Referring Children and Families for Additional Services
- Texas Health and Humans Services Commission. Children with Special Health Care Needs (CSHCN) Services Program provides information about eligibility and the application process.
- Texas Health and Human Services Commission. Early Childhood Intervention Services (ECI). ECI Information for Health and Medical Professionals. Health-care providers should use the ECI Physician Referral Form to refer patients ages birth through 35 months.
- Texas Medicaid & Healthcare Partnership. Texas Medicaid Provider Procedures Manual.
Texas Health Steps Resources
- Texas Health Steps Catalog.
- Texas Health Steps. Child Health Clinical Record Forms, including developmental surveillance and screening tools.
- Texas Health and Human Services Commission. Medical Providers. Texas Health Steps Medical Checkup Periodicity Schedule.
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
- Centers for Disease Control and Prevention. (2023). Family Health History helps patients organize family history information.
- Disease InfoSearch provides resources about the signs and symptoms of conditions, the latest research, and how to access support.
- MedlinePlus Genetics 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 and families can find a listing of online tools for generating a family history.
- National Human Genome Research Institute. What’s a Genome?
- National Organization of Rare Diseases (NORD).
- Health and Human Services Commission. Texas Department of State Health Services. Genetics.
- Texas Department of State Health Services. Texas Department of State Health Services. When Genetic Services Are Needed.
- Texas Health and Human Services Commission. Children with Special Health Care Needs (CSHCN) Services Program.
- Texas Health and Human Services Commission. Early Childhood Intervention Services (ECI). ECI Library Collection.
- Texas Health and Human Services Commission. Early Childhood Intervention Services (ECI).
- Texas Health and Human Services Commission. Texas Health Steps.
- The University of Texas Health Science Center at Houston. McGovern Medical School. MotherToBaby Texas TIPS (Texas Teratogen Information in Pregnancy).