SWHR Genetic Screening Roadmap: Educational Materials and Resources to Support Clinical Practice
Part of the Genetic Screening Roadmap: A Clinician’s Guide to Providing Quality Maternal Health Care
Pre-pregnancy general awareness and education about genetic screening provides a foundation to introduce women about the purpose and limitations of screening tests vs. diagnostic tests. Education among health care providers, patients, and their families also promotes more informed and shared decision-making for optimal health outcomes.
Resources to assist clinicians in understanding the scope of preconception and prenatal testing:
- CDC Genetic Counseling and Testing
- AMA Precision Medicine and Genomics: Understanding Implications and Applications (self-paced CME courses)
- NHGRI Understanding Human Origins and Ancestry
- NIH Genetic Testing Registry
- GeneReviews covers diagnosis, management, and counseling for patients concerning single genes, phenotypes, or genetic causes of common conditions
Resources that provide guidance to clinicians on implementing genetic testing:
- Professional Medical Society Recommendations
- ACOG Guidance on Carrier Screening for Genetic Conditions
- ACMG Practice Resource: Screening for Autosomal Recessive and X-linked Conditions
- Expanded Carrier Screening in Reproductive Medicine — Points to Consider (Joint Statement of ACMG, ACOG, NSGC, PQF, and SMFM)
- ACOG NIPS Summary of Recommendations
- Precision Medicine for Your Practice: Expanded Carrier Screening (self-paced online CME course offered by The Jackson Laboratory)
- Precision Medicine for Your Practice: Prenatal Cell-Free DNA Screening (self-paced online CME course offered by The Jackson Laboratory)
- Find a Genetic Counselor Directory hosted by the National Society of Genetic Counselors
SWHR Genetic Screening Roadmap: Discussion Guidance for Counseling Patients
Part of the Genetic Screening Roadmap: A Clinician’s Guide to Providing Quality Maternal Health Care
Pre-pregnancy general awareness and education about genetic screening provides a foundation to introduce women about the purpose and limitations of screening tests vs. diagnostic tests. Education among health care providers, patients, and their families also promotes more informed and shared decision-making for optimal health outcomes.
Resources to assist clinicians in understanding the scope of preconception and prenatal testing:
- CDC Genetic Counseling and Testing
- AMA Precision Medicine and Genomics: Understanding Implications and Applications (self-paced CME courses)
- NHGRI Understanding Human Origins and Ancestry
- NIH Genetic Testing Registry
- GeneReviews covers diagnosis, management, and counseling for patients concerning single genes, phenotypes, or genetic causes of common conditions
Resources that provide guidance to clinicians on implementing genetic testing:
- Professional Medical Society Recommendations
- ACOG Guidance on Carrier Screening for Genetic Conditions
- ACMG Practice Resource: Screening for Autosomal Recessive and X-linked Conditions
- Expanded Carrier Screening in Reproductive Medicine — Points to Consider (Joint Statement of ACMG, ACOG, NSGC, PQF, and SMFM)
- ACOG NIPS Summary of Recommendations
- Precision Medicine for Your Practice: Expanded Carrier Screening (self-paced online CME course offered by The Jackson Laboratory)
- Precision Medicine for Your Practice: Prenatal Cell-Free DNA Screening (self-paced online CME course offered by The Jackson Laboratory)
- Find a Genetic Counselor Directory hosted by the National Society of Genetic Counselors
SWHR Genetic Screening Roadmap: Discussion Guidance for Counseling Patients
This document is intended to serve as an educational and informative resource and is not intended or implied to serve as a substitute for medical or professional advice. The Society for Women’s Health Research does not make medical, diagnosis, or treatment recommendations, nor does it endorse or promote specific screening or diagnostic tests. Patients and consumers should confirm information and consult a professional health care provider to determine individual needs. The Society will not be liable for any direct, indirect, or other damages arising therefrom.
Support for this educational program has been provided by Illumina Inc., Invitae, and Myriad Women’s Health.