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
A critical barrier to implementing genetic screening involves patient access to conversations about the purpose and process of incorporating screening into their reproductive health plan. It is important that every patient is provided opportunities for individualized genetic screening. Further, patients should be reassured that they have options and the freedom to choose if they want to be screened and how to navigate the process. Providers should provide additional resources to support informed decision-making.
Below are some recommendations for clinicians to help identify access points and opportunities to engage women patients and their families about genetic screening:
- ACOG Guidance on Counseling about Genetic Testing and Communication of Genetic Test Results
- JAX Pretest Counseling Recommendations
- Noninvasive Prenatal Testing: How Can You Apply New Screening Methods and Updated Guidance for their Use in Your Clinical Practice? (self-paced online CME course offered by Med Learning Group)
Engaging in patient conversations:
- JAX Communicating Genetic Risk
- JAX Informed Consent Checklist
- JAX Genetic Information Nondiscrimination Act (GINA) Discussion Guide about how GINA protects individuals from misuse of genetic information in health insurance and employment
- JAX Accessing Genetic Services provides talking points to assist patients in the referral process to secure services
Everyone faces the challenge of suppressing personal biases and values when engaging individuals from different backgrounds. Even the most well-intentioned providers must periodically take a self-inventory to ensure their communication and engagement is culturally sensitive and appropriate to the patients they are serving. Cultural and personal values also affect how patients, in turn, interact with their health care providers and how they will view genetic screening. It is important to adopt patient-centered practices that take into consideration these factors.
Addressing cultural competency:
- NCCC Cultural and Linguistic Competency for Personnel Providing Health Care Services Checklist
- Ethnic-Sensitive Inventory counselor self-assessment tool for practitioners working with ethnic minority clients
- CDHPD Addressing Current Gaps in the Provision of Prenatal Testing to Improve Patient Support and Present Disabilities More Equitably
Below are resources for patients and providers to get additional information and support, especially as a follow-up to positive screening results.
Genetic Condition Organizations:
- Cystic Fibrosis Foundation
- The Marfan Foundation
- National Fragile X Foundation
- National Tay-Sachs and Allied Diseases Association, Inc.
- Osteogenesis Imperfecta Foundation
- Sickle Cell Disease Association of America
- Spinal Muscular Atrophy: Cure SMA
Patient Support Organizations:
- Expecting Health
- Genetic Support Foundation
- Jewish Genetic Disease Consortium
- Lettercase: National Center for Prenatal and Postnatal Resources
- Little People of America
- Remember the Girls for females with X-linked disorders
Part of the Genetic Screening Roadmap: A Clinician’s Guide to Providing Quality Maternal Health Care
Part of the Genetic Screening Roadmap: A Clinician’s Guide to Providing Quality Maternal Health Care
A critical barrier to implementing genetic screening involves patient access to conversations about the purpose and process of incorporating screening into their reproductive health plan. It is important that every patient is provided opportunities for individualized genetic screening. Further, patients should be reassured that they have options and the freedom to choose if they want to be screened and how to navigate the process. Providers should provide additional resources to support informed decision-making.
Below are some recommendations for clinicians to help identify access points and opportunities to engage women patients and their families about genetic screening:
- ACOG Guidance on Counseling about Genetic Testing and Communication of Genetic Test Results
- JAX Pretest Counseling Recommendations
- Noninvasive Prenatal Testing: How Can You Apply New Screening Methods and Updated Guidance for their Use in Your Clinical Practice? (self-paced online CME course offered by Med Learning Group)
Engaging in patient conversations:
- JAX Communicating Genetic Risk
- JAX Informed Consent Checklist
- JAX Genetic Information Nondiscrimination Act (GINA) Discussion Guide about how GINA protects individuals from misuse of genetic information in health insurance and employment
- JAX Accessing Genetic Services provides talking points to assist patients in the referral process to secure services
Everyone faces the challenge of suppressing personal biases and values when engaging individuals from different backgrounds. Even the most well-intentioned providers must periodically take a self-inventory to ensure their communication and engagement is culturally sensitive and appropriate to the patients they are serving. Cultural and personal values also affect how patients, in turn, interact with their health care providers and how they will view genetic screening. It is important to adopt patient-centered practices that take into consideration these factors.
Addressing cultural competency:
- NCCC Cultural and Linguistic Competency for Personnel Providing Health Care Services Checklist
- Ethnic-Sensitive Inventory counselor self-assessment tool for practitioners working with ethnic minority clients
- CDHPD Addressing Current Gaps in the Provision of Prenatal Testing to Improve Patient Support and Present Disabilities More Equitably
Below are resources for patients and providers to get additional information and support, especially as a follow-up to positive screening results.
Genetic Condition Organizations:
- Cystic Fibrosis Foundation
- The Marfan Foundation
- National Fragile X Foundation
- National Tay-Sachs and Allied Diseases Association, Inc.
- Osteogenesis Imperfecta Foundation
- Sickle Cell Disease Association of America
- Spinal Muscular Atrophy: Cure SMA
Patient Support Organizations:
- Expecting Health
- Genetic Support Foundation
- Jewish Genetic Disease Consortium
- Lettercase: National Center for Prenatal and Postnatal Resources
- Little People of America
- Remember the Girls for females with X-linked disorders
Part of the Genetic Screening Roadmap: A Clinician’s Guide to Providing Quality Maternal Health Care
Navigating the Roadmap
- Introduction to SWHR’s Genetic Screening Roadmap
- Genetic Screening and Women’s Health
- Educational Materials and Resources to Support Clinical Practice
- 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.
This material was created by the Society for Women’s Health Research (SWHR) and is intended to serve as a public educational and informative resource. This material may be cited or shared on external channels, websites, and blogs, with attribution given to SWHR, or printed and displayed in its original formatted version. SWHR encourages the sharing and reposting of its content in order to spread awareness around women’s health issues. For specific questions about sharing SWHR content, please reach out to communications@swhr.org.