Genetic Counseling

Genetic Counseling Page 1 of 9 Disclaimer: This algorithm has been developed for MD Anderson using a multidisciplinary approach considering circumstances particular to MD Anderson’s specific patient population, services and structure, and clinical information. This is not intended to replace the independent medical or professional judgment of physicians or other health care providers in the context of individual clinical circumstances to determine a patient's care. TABLE OF CONTENTS Patient Evaluation and Recommendation……………………………………………………………………………... Page 2 Testing and Follow-up…...……………………………………………………………………………………………… Page 3 Appendix A: Genetics Counseling Referral Criteria………………………..……………………………….….……..Pages 4-6 Appendix B: Patient Education Material…..…………………………………...……….…………………..….……... Page 7 Suggested Readings………...…………….…………….…..………………………………………………………….....Page 8 Development Credits...………………………………………………………………………………………….………..Page 9 Department of Clinical Effectiveness V3 Approved by the Executive Committee of the Medical Staff on 09/21/2021 Genetic Counseling Page 2 of 9 Disclaimer: This algorithm has been developed for MD Anderson using a multidisciplinary approach considering circumstances particular to MD Anderson’s specific patient population, services and structure, and clinical information. This is not intended to replace the independent medical or professional judgment of physicians or other health care providers in the context of individual clinical circumstances to determine a patient's care. PATIENT EVALUATION RECOMMENDATION Please refer to primary oncology center-specific ● Refer patient to 2 procedures for pre-test informed consent and Genetics Yes post-test genetic counseling ● If patient declines Alternate Patient referred to recommendation pre-test consent See Page 3 Clinic for genetic process in for testing ● Genetic Counselor (GC) Yes counseling, place? Does and follow-up to assess: provider to patient agree to No ○ Patient’s relevant personal testing? document in EHR and family history Yes No ○ Cancer risk/hereditary Testing cancer risk Provider to assess indicated? Yes ○ Testing guidelines need for Genetics Does ● GC to document No ● GC to document in the EHR if referral based on patient meet recommendation(s) in the patient declines recommendation for current and available primary referral EHR including whether genetic testing information (see criteria1? Appendix A for testing is indicated or not ● Clinic to manage care as clinically Referral Criteria) indicated No ● Consider Genetics referral ● Clinic to manage care as clinically indicated Does Yes patient meet additional referral criteria? No ● Consider documenting in the EHR that patient does not meet criteria for Genetics referral ● Clinic to manage care as clinically indicated EHR = electronic health record 1 For cancer types without established referral criteria, Genetics referral may be made at the discretion of the provider 2 For an appointment or further information, call 855-384-6254 and indicate the appropriate disease center, (e.g., Breast Medical Oncology, Gynecology Oncology, Gastrointestinal Center) Department of Clinical Effectiveness V3 Approved by the Executive Committee of the Medical Staff on 09/21/2021 Genetic Counseling Page 3 of 9 Disclaimer: This algorithm has been developed for MD Anderson using a multidisciplinary approach considering circumstances particular to MD Anderson’s specific patient population, services and structure, and clinical information. This is not intended to replace the independent medical or professional judgment of physicians or other health care providers in the context of individual clinical circumstances to determine a patient's care. TESTING RESULT FOLLOW-UP ● GC discusses results and interpretation with patient and documents in the EHR ● Utilize National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines or Mutation other published recommendations positive ● Refer to the appropriate high risk clinic(s) based on the genetic mutation ● Consider referral to specialist to discuss family planning implications, as needed 2 ● Encourage patient to discuss results with family members for potential testing ● Patient signs lab- and test- specific genetic testing informed consent 1 ● GC coordinates appropriate test(s) and reviews results(s) ● GC discusses results and interpretation with patient and documents in the EHR Mutation ● Service Center to manage care as clinically indicated negative ● Manage based on family history and refer to the appropriate high risk clinic(s) as necessary ● GC discusses results and interpretation with patient and documents in the EHR Variant of uncertain ● GC contacts patient for further discussion if an amended report of the VUS is received from significance (VUS) the reference lab ● Manage based on family history and refer to the appropriate high risk clinic(s) as necessary 1 In most cases peripheral blood is the preferred sample. In select cases (e.g., allogeneic stem cell transplant or hematologic malignancy), a different source of DNA such as cultured fibroblasts from a skin punch biopsy is required. 2 Refer to Appendix B for Patient Education Material Department of Clinical Effectiveness V3 Approved by the Executive Committee of the Medical Staff on 09/21/2021 Genetic Counseling Page 4 of 9 Disclaimer: This algorithm has been developed for MD Anderson using a multidisciplinary approach considering circumstances particular to MD Anderson’s specific patient population, services and structure, and clinical information. This is not intended to replace the independent medical or professional judgment of physicians or other health care providers in the context of individual clinical circumstances to determine a patient's care. APPENDIX A: Genetics Counseling Referral Criteria Primary Referral Criteria Additional Referral Criteria ● Patient with a personal history of breast cancer diagnosed at ≤ 50 years of age ● Patients that do not meet Primary Referral Criteria, but have a personal history of ● Patient with a personal history of TRIPLE NEGATIVE breast cancer diagnosed at breast cancer and there is a strong clinical suspicion for hereditary cancer age ≤ 60 years ● Ashkenazi Jewish individuals not meeting above criteria ● Patient with multiple breast primaries when first breast cancer is diagnosed at age ≤ 65 years ● Patient with a personal history of breast cancer diagnosed at any age, and one or more of the following: ○ Personal history of ovarian cancer or pancreatic cancer ○ Family history of ovarian cancer ○ Family history of breast cancer diagnosed at age ≤ 50 years ○ Family history of male breast cancer 1 ○ Family history of ≥ 2 relatives diagnosed with breast cancer at any age ○ Family history of metastatic or high grade prostate cancer ○ Family history of pancreatic cancer Breast ○ Family history of cancers, and/or dermatologic manifestations suggestive of Cowden syndrome (e.g., thyroid cancer, endometrial cancer) ○ Family history of cancers suggestive of Li-Fraumeni syndrome (e.g., sarcoma, adrenocortical cancer, brain tumors) ○ Ashkenazi Jewish ancestry ● Any male patient with a personal history of breast cancer ● Any member of a family with a known mutation ● Metastatic breast cancer patient considering targeted therapy based on genetic test results (e.g., PARP inhibitors) ● Patient with BRCA1/2 pathogenic or likely pathogenic variant detected on tumor profiling on any tumor type in absence of germline pathogenic/likely pathogenic variant analysis ● An affected or unaffected patient with a first- or second-degree relative meeting any of the above criteria 1 Family history should be all on the same side of the family, (e.g., either maternal or paternal) and includes first, second, and third-degree relatives Continued on next page Department of Clinical Effectiveness V3 Approved by the Executive Committee of the Medical Staff on 09/21/2021 Genetic Counseling Page 5 of 9 Disclaimer: This algorithm has been developed for MD Anderson using a multidisciplinary approach considering circumstances particular to MD Anderson’s specific patient population, services and structure, and clinical information. This is not intended to replace the independent medical or professional judgment of physicians or other health care providers in the context of individual clinical circumstances to determine a patient's care. APPENDIX A: Genetics Counseling Referral Criteria - continued Primary Referral Criteria Additional Referral Criteria Patients with any of the following: Patients with any of the following: ● Tumor studies suggestive of hereditary nonpolyposis colorectal cancer ● Colorectal adenocarcinoma diagnosed at any age and first- or 1 (HNPCC)/ Lynch syndrome (MSI-H and/or loss of staining for any mismatch repair second-degree relative with any HNPCC-related cancer , regardless of age protein by IHC), regardless of tumor type ● Multiple (> 5) adenomas on a single colonoscopy at age < 50 years ○ If loss of MLH1/PMS2, no evidence of MLH1 methylation and/or no somatic BRAF ● Unusual polyp burden (young age at diagnosis, histology, number) mutation (in primary colorectal tumors) ● Colorectal adenocarcinoma diagnosed at age < 50 years ● Colorectal adenocarcinoma diagnosed at any age and first- or second-degree relative 1 with any HNPCC-related cancers , diagnosed at age < 50 years ● Colorectal adenocarcinoma, regardless of age and one or more of the following in Gastrointestinal his/her personal history: ○ Synchronous or metachronous colorectal cancer 1 ○ HNPCC-related cancers

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