Table 2.

Statements on which consensus was reached.

1. Family history questionnaires

It is best practice for family history questionnaires to include questions asking the probands’ gender identity and trans status, in line with the LGBT Foundation “Good practice guide to monitoring sexual orientation and trans status 2021”  72% strongly agree; 26% agree (98% consensus, n = 64) It is best practice for family history questionnaires to include a question asking the proband’s sex assigned at birth  76% strongly agree; 22% agree (98% consensus, n = 63) It is best practice for family history questionnaires to include an explanation as to why questions about trans status, gender identity, and sex assigned at birth are being asked  83% strongly agree; 17% agree (100% consensus, n = 59) It is best practice for family history questionnaires to include a free text box where the proband can include any other information about themselves or their family that they would like genetics to know, or that they feel would be relevant to their risk assessment  61% strongly agree; 37% agree (98% consensus, n = 65) It is best practice for family history questionnaires to include space for proband’s title and pronouns in personal details sections  80% strongly agree; 20% agree (100% consensus, n = 60)

2. Pedigrees

The shape that corresponds with the patients’ gender identity should be used when denoting a transgender man or transgender woman, with sex assigned at birth annotated beneath the symbol  47% strongly agree; 47% agree (94% consensus, n = 59) An additional symbol (other than the existing symbols such as square, circle, diamond, triangle etc.) should be available to denote non-binary and other gender-diverse identities, with sex assigned at birth annotated beneath the symbol  49% strongly agree; 38% agree (87% consensus, n = 65) Until further research and/or collaboration involving PPI and clinicians has been carried out, a hexagon should be used to denote non-binary and other gender-diverse identities, with sex assigned at birth annotated beneath the symbol  34% strongly agree; 50% agree (84% consensus, n = 62) Annotation used should be sex assigned at birth, not sex chromosomes, or other annotations such as “male to female” (“MTF”) or “female to male” (“FTM”)  67% strongly agree; 33% agree (100% consensus, n = 57) Patients should be advised why annotation of sex assigned at birth on pedigree may be clinically important information  80% strongly agree; 20% agree (100% consensus, n = 56) Where pedigree software does not allow for representing TGD patients as described above, clinicians should make efforts to manually correct the pedigree. If this is not possible or clinically safe, this should be recorded into the genetics notes  33% strongly agree; 57% agree (90% consensus, n = 61) Where pedigree software does not allow for representing TGD patients as described above, genetics services should encourage software developers to consider these features  65% strongly agree; 30% agree (95% consensus, n = 57)

3. Clinical information

Clinicians should use the title, name, pronouns, and family relationship terms that patients have stated their preferences for. If there is uncertainty over which terms the individual wishes to be used, this should be politely clarified  71% strongly agree; 27% agree (98% consensus, n = 55) It is best practice for current genetics records of name, gender, and title to be updated promptly on request of the patient, where possible. If this is not possible this should be documented  69% strongly agree; 25% agree (94% consensus, n = 55) Information about gender diversity should be received non-judgementally  83% strongly agree; 17% agree (100% consensus, n = 58) Clinicians should seek patient consent before recording, storing, or sharing information about gender history. Gender history should be treated with appropriate confidentiality as per national guidance  46% strongly agree; 38% agree (84% consensus, n = 63) Clinicians should ensure that individuals understand the purpose of clinical questions that are asked and examinations that are performed from the beginning of an appointment  67% strongly agree; 31% agree (98% consensus, n = 54) Clinicians should not unnecessarily ask personal information about patients’ gender history where this is not relevant to their care (for example, details about breast/chest surgery are not relevant to serrated polyposis syndrome)  43% strongly agree; 45% agree (88% consensus, n = 53) If potentially sensitive information about gender history is clinically relevant (e.g., in context of breast, prostate, and gynaecological cancer risk) questions should be asked clearly and directly, to avoid making assumptions  60% strongly agree; 38% agree (98% consensus, n = 50) Clinically relevant information includes (but is not limited to): • Past, current & planned gender-affirming hormones • Previous & planned gender-affirming surgeries • Gamete storage • Whether patient is under the care of a gender identity specialist (GIS), is on the waitlist for a GIS, or has been discharged back to GP from GIS  26% strongly agree; 67% agree (98% consensus, n = 54)

4. Breast tissue management

It is best practice (based on current evidence) for TGD patients who were assigned female at birth, and have remaining breast tissue (i.e., not had gender-affirming chest surgery), to be offered the same breast screening as cisgender women with equivalent risk (including population, moderate, high, and very high-risk screening)  52% strongly agree; 42% agree (94% consensus, n = 66) It is best practice (based on current evidence) for TGD patients who were assigned male at birth, and have developed additional breast tissue because of ≥5 years use of exogenous hormones, to be offered the same breast screening as cisgender women with equivalent risk (including population, moderate, high and very high-risk screening)  52% strongly agree; 45% agree (97% consensus, n = 71) TGD patients should be signposted to inclusive breast/chest awareness resources (where clinically appropriate)  85% strongly agree; 15% agree (100% consensus, n = 71) If risk-reducing mastectomy is in alignment with a patient’s plans for gender-affirming care, it may be appropriate to consider such surgery at a younger age than is often typical (on a case-by-case basis)  37% strongly agree; 51% agree (88% consensus, n = 71) It is best practice to use a shared decision-making model for breast/chest surgical management, involving the patient, gender identity specialists, surgeons, and clinical genetics  89% strongly agree; 11% agree (100% consensus, n = 72)

5. Gynaecological and prostate management

If risk-reducing tubal and/or ovarian surgery and/or hysterectomy is in alignment with a patient’s plans for gender-affirming care, it may be appropriate to consider such surgery at a younger age than is often typical (on a case-by-case basis)  39% strongly agree; 52% agree (91% consensus, n = 69) It is best practice for trans and gender-diverse patients with a prostate and a high-risk inherited predisposition to prostate cancer to have a discussion about prostate screening and be referred to a specialist clinic where possible  67% strongly agree; 32% agree (99% consensus, n = 69)

6. Patient pathways

Where applicable, clinicians relevant to patients’ gender care should be consulted by clinical genetics, with the consent of the patient  39% strongly agree; 50% agree (89% consensus, n = 66) Inherited cancer predisposition should not be a barrier to accessing gender-affirming treatment. Instead, clinicians should provide information about risks for patients to make informed decisions about their care, acknowledging if there is limited data currently available  56% strongly agree; 42% agree (98% consensus, n = 66) If genetic input is delaying gender-affirming treatment, clinical genetics should consider treating referrals with priority (on a case-by-case basis)  43% strongly agree; 49% agree (92% consensus, n = 61) If gender specialist input is delaying timely cancer risk reduction, clinical genetics should consider requesting priority review from gender identity services (on a case-by-case basis)  45% strongly agree; 49% agree (94% consensus, n = 65) A multidisciplinary team meeting involving relevant specialists (i.e., clinical genetics, gender identity specialists, surgeons, endocrinologists, radiologists) is desired in the form of… • A regularly scheduled national MDT meeting, comprised of centralised experts and clinicians relevant to the cases discussed 77% • Ad hoc MDT meetings as required, comprised of appropriate local specialists and clinicians relevant to the cases discussed 23% • Not desired 0% (n = 66) Any multidisciplinary team meeting involving relevant specialists should be adequately funded and resourced  90% strongly agree; 10% agree (100% consensus, n = 60)

7. Education

Relevant education is desired for: • Genetic Counsellors in training 84% • Clinical Geneticists in training 85% • Genetics Clinicians throughout their career in the form of continuing professional development 99% (n = 68)