A Systematic Review of Patient-Reported Measures for Individuals Who Underwent Genetic Testing for Heritable Cancer

Advances in genomic technologies have driven a substantial shift in cancer care, including early screening and targeted interventions for high-risk individuals who have not received a cancer diagnosis. Understanding patients' experience of care and their associated outcomes is essential to effectively delivering precision medicine. These outcomes are usually evaluated through patient-reported measures (PRMs), rather than administrative data.

We conducted a systematic review of literature to identify, describe and qualitatively summarise the PRMs employed when individuals underwent genetic testing for heritable cancers. Risk of bias was not assessed as the emphasis was on description.

Search terms included cascade screening OR carrier screening OR genetic testing OR genetic counselling AND cancer AND patient-reported outcomes AND NOT Review (publication type). Reviews, meta-analyses and protocols were excluded.

A total of 474 articles were identified using PubMed in May 2025, with studies only included where the outcome measure was reported by the patient, who was in receipt of a germline genetic test for heritable cancer. Following full-text review, 39 studies involving 16,523 participants were included for data extraction, with grouping undertaken by one reviewer and checked by another. We identified 83 measures, with 30 of them being genetics-specific PRMs. These PRMs focussed on knowledge of genetics, perceptions, concerns, interest and acceptability. The majority of the included studies were conducted in the USA (61.5%) and included patients with breast cancer (n_breast = 8; n_{breast&ovarian} = 15) and those of Caucasian/European ancestry (70%) with at least a college education and full-time employment (77.7%). Notably, only 16 studies included only participants diagnosed with cancer, and of the remaining, 7 included participants with a strong family history.

Given differences in legislative frameworks regarding the use of genetic information across countries, most included studies were conducted in countries where discrimination based on genetic features is illegal. It was also evident that studies on cancers other than breast are warranted and could inform standardised collection of key outcomes across the cancer spectrum. Likewise, there was an overrepresentation of studies including white, well-educated and employed participants. This review has identified, described and summarised what types of measures have been used when patients have undergone genetic testing for cancer and highlighted the urgent need for development of additional PRMs in this area, particularly in cancers other than breast.

This work was supported by funding from the Royal Hobart Hospital Research Foundation.