Assessing transgender and gender non-conforming pedigree nomenclature in current genetic counselors' practice: The case for geometric inclusivity.

Healthcare professionals rely on national organizations for guidance; the National Society of Genetic Counselors (NSGC) and the National Comprehensive Cancer Network (NCCN) have differing guidelines for acceptable pedigree symbols to represent transgender patients and minimal recommendations for gender non-conforming (GNC) patients. Inconsistency in accepted pedigree symbols to represent these patients is a barrier to providing them appropriate care. We assess variability in pedigree practice among genetic counselors and students, as well as reported education on serving the needs of the transgender and GNC communities, through a survey distributed through NSGC. Participants felt symbols similar to NSGC's (41.1%) and NCCN's (29.7%) recommendations for transgender patients are appropriate and emphasized a desire to affirm gender identity. We identified greater variability in symbols representing a GNC patient; 19.2% of participants selected 'other', explaining they were unsure of the appropriate choice. A high interest (99%) in further training demonstrates a recognition of education as an effective strategy for improving awareness and competency. Promotion of existing resources could help address the fact that 81% of participants were unaware of any standardized symbols used to represent transgender individuals. Creating affirming, standardized pedigree nomenclature is necessary for appropriate and consistent care.

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

DISCLAIMER: The practice guidelines of the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed by members of the ACMG and NSGC to assist medical geneticists, genetic counselors, and other health-care providers in making decisions about appropriate management of genetic concerns, including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the ACMG and NSGC joint practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are current only as of their publication date, and are subject to change without notice as advances emerge. In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments, and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health-care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by the ACMG or the NSGC for educational and informational purposes only, and neither the ACMG nor the NSGC "approve" or "endorse" any specific methods, practices, or sources of information.Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peer-reviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their first-degree relatives meet any of these referral criteria.