From 1st October 2019-30th September 2022, 4,044 patients completed cFHQS. The average time from the patient registration with the online cFHQS system to submission of the completed form was 5.41 days. Outcomes with respect to the three research questions are reported below.

(1) Are we equally serving our population of patients in terms of diversity and access?

The average age of the patients with a completed cFHQS was 47 years old (3–92 years).

2,654/4,044 (65.6%) patients reported their ethnicity as white British, 573/ 4,044 (14.2%) as any other white Background and 127/4,044 (3.1%) as white Irish. White British, any other white background and white Irish were all overrepresented when compared with 2021 census ethnicity data for the SWTCG region [19]. 76/4,044 (1.9%) of respondents were from an Indian background, 44/4,044 (1.0%) Pakistani background, 52/4,044 (1.3%) from a black Caribbean background and 40/4,044 (0.99%) from a black African background. These ethnic minority groups, amongst others were all underrepresented when compared with 2021 census data (Table 2).

Table 2 Ethnicity data for the 14 most reported ethnicities compared with 2021 census data

Data on sex and gender demographics showed that 3,359/4,044 (83%) of the individuals who completed cFHQS reported being assigned female at birth and 685/4,044 (17%) reported being assigned male at birth. 15/4,044 (0.37%) provided a gender identity that differed with the sex assigned at birth. The percentage of patients with gender diversity was lower than expected in the SWTCG region which is estimated to be 0.5% [20].

(2) Are we providing an appropriate service to our region for the funding that we receive in Clinical Genetics?

1,349/4,044 (33%) patients reported a personal cancer/tumour/polyp diagnosis. The most common reported personal diagnosis was breast cancer 449/1,349 (33%) (supplementary Table 1). The remaining 2,695/4,044 (67%) patients who completed cFHQS were unaffected with cancer.

We considered only the 2,695 unaffected individuals with respect to final assessment outcome and appropriateness of referral.

After accounting for duplicate diagnostic codes, 1,376/4,044 (34%) patients who completed cFHQS were assigned a breast or colorectal cancer screening status diagnostic code (Table 3). 277/1,376 (20%) were colorectal screening codes and 1,099/ 1,376 (80%) were breast screening codes. 224/277 (81%) of colorectal screening recommendations were population or moderate risk. 785/1,099 (71%) of breast screening recommendations were population or moderate risk.

Table 3 Screening status for unaffected patients who completed cFHQSAre we enabling all patients to receive any genomic testing or SPED they are eligible for across tumour types?

36 different cancer/tumour/polyp types were reported across the 4,044 patients, excluding “other” free text options. 3,566/4,044 (88%) patients reported more than one cancer/tumour/polyp diagnosis in their family. The average number of different cancer/tumour/polyp diagnoses in the pedigrees of the 4,044 patients who completed cFHQS was 4 (0–34).

Geneworks was reviewed for second diagnosis codes to assess if multiple pan-tumour recommendations were made based on the family history provided for this cohort. Of the 1,376 patients with a screening diagnosis code, 402 were population risk (29%). After removal of population risk patients, 12 out of 974 (1.2%) received a screening diagnosis code for both breast and colorectal cancer.

62/974 (6%) patients had a screening status code for breast or colorectal cancer and another unrelated cancer diagnosis coded on Geneworks. 13/974 (1.3%) required action because of the second diagnosis. When adding together those patients with both a breast and colorectal screening diagnosis and those with an actionable second cancer diagnostic code, 25/974 (2.5%) patients would have missed out on a second screening or genetics recommendation if the assessment was focused on a single cancer type alone.

In addition, 2/974 (0.2%) patients were referred back to Clinical Genetics following the original screening assessment with a new cancer genetic diagnosis and were eligible for genetic testing. 2/974 (2%) patients were offered further investigation by the rare disease arm of Clinical Genetics team due to a rare disease indication noted on the cFHQS summary. Indications included motor neurone disease (MND) and premature ovarian failure.