Evaluation & Testing Decisions Toolkit

Collaborating with and referring to genetics

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates risk assessment, education, and counseling. In some cases, it includes the offer and interpretation of genetic testing. The purpose is to help the patient and family to interpret and adapt to the genetic information, and make informed decisions based on his or her understanding of risks. Genetic counseling is best provided by specialists with knowledge and experience in clinical genetics, such as genetic counselors, physician geneticists, and advanced practice nurses trained in genetics. All providers, however, play a role in the genetic counseling process by: identifying patients who would benefit from genetic counseling, including patients who have personal or family histories suggestive of a hereditary syndrome; providing referral to genetic counseling services, informing patients about the reasons for and benefits of genetic counseling; helping patients identify what family medical information will be necessary for risk assessment; using the outcome of the genetics consultation to identify screening, risk reduction, and management plans; and answering questions for patients. Genetic counseling is also appropriate for patients at increased risk who do not wish to pursue genetic testing, and in cases where the patients risk status is uncertain. For questions about the need for referral, consult with the specialist.

Locating A Genetics Professional

American College of Medical Genetics: www.acmg.net National Society of Genetic Counselors: www.nsgc.org GeneTests Clinic Directory: www.genetests.org

published July 2012 NCHPEG All rights reserved

Checklist for Collaboration with a Genetics Professional

How to use this tool: This tool outlines the information you should include when referring a patient for genetic evaluation. You can print and fill it out for a patient, adapt it to use as a clinic form in your own practice, or transcribe the elements into an electronic referral form or template. Reason for Referral/History of Presenting Illness:

Developmental History On time (3) Gross Motor Fine Motor Speech Review of Systems and Physical Exam (3) if normal Constitutional Eyes ENT/Audiology Cardiovascular Respiratory Gastrointestinal Genitourinary Comments: Musculoskeletal Skin Psychiatric Endocrine Hematology Allergy Immunology Delayed (3) Regression (3)

Labs / Studies Normal (3) EEG EMG BAER MRI CT LP Metabolic Genetic Family History (3) if applicable DD MR/ID Stroke Headache/ Migraines Seizures Consanguinity Other Unremarkable published July 2012 NCHPEG All rights reserved Describe relationship to patient Abnormal (3) If abnormal, explain