This survey aimed to explore the genetic counselling and testing experience of people living with IMDs in ROI and who attend NCIMD-Mater, to provide a baseline upon which to evaluate the validity of the forthcoming role for genetic counsellors embedded within the service. The subgroup of patients selected were planning pregnancy, pregnant or within 12 months postpartum, placing a particular focus on the impact of genetic counselling on pregnancy planning within the rare disease community. A high proportion, 87% (27/31), of this cohort were diagnosed in childhood including 26/27 diagnosed with phenylketonuria (PKU) by the Irish new-born screening program (Health Service Executive 2018).

In our study, 19% of survey respondents were unsure if they had previously had genetic counselling and 55% were unaware of this option. 42% of respondents reported a desire to be referred for genetic counselling. This confirms previous findings in this patient cohort that the transfer of genetic information from parents to their children affected with IMDs can be limited (O’Shea et al. 2011) and may account for the relatively low awareness of genetic counselling.

There is a need for public education about the availability of genetic counselling and the role of genetic counsellors. Over half of respondents reported a lack of awareness about genetic counselling services, which mirrors the larger public survey published by our group (Ward et al. 2023). Education on and raising awareness of genetic counselling is planned as part of the National Strategy for Accelerating Genetic and Genomic Medicine in Ireland (Health Service Executive (2022).

Survey findings highlight that adults with IMDs would value an opportunity to access genetic counselling to explore their genetic testing results and clarify reproductive risks. With wait lists of up to two years for genetic services in Ireland (Bradley and Lynch 2021), over 2,799 waiting for Consultant Clinical Geneticist outpatient appointments in December 2022 (National Treatment Purchase Fund 2022) and similar Genetic Counsellor waiting lists (personal communication SA Lynch); the Irish Health Service Executive (2019) acknowledges such delays as an issue. Two participants in this study reported that wait times for genetic counselling appointments had a direct impact on their personal lives by delaying relationship and family-starting plans.

This survey suggests that patients value human interaction when receiving genetic testing results as in-person, telephone or video call were preferred methods of communication. However, comments in the free-text boxes revealed a role for telehealth as an alternative to in-person appointments to improve access for patients living remotely. The positive role for telehealth in genetic counselling has previously been reported, Abrams and Geier (2006), who noted adequate patient satisfaction.

Although NCIMD-Mater has a clinical geneticist on staff, responses to our survey still indicate a desire for genetic counselling referral. This echoes findings by Bartley et al (2020) where participants in an oncology study stated that they preferred to have a genetic counsellor rather than a medical geneticist or oncologist explain genomic testing results, also placing emphasis upon the importance of communication skills.

Development of diagnostics and therapeutics has improved general management for patients with IMDs, allowing lengthening of lifespans and the preservation of intellect in many. Patients with these conditions are now more likely to establish relationships allowing couples to consider reproductive options. Providing information about inheritance and supports available for reproduction were the two most correctly identified roles of genetic counsellors amongst this cohort of participants (45% each, 14/31). Discussion of reproductive plans, recurrence risks and prenatal diagnosis contributes to an increased sense of personal control amongst patients regarding their future (Pichini et al. 2016) and an improved capacity for reproductive decision making (Conway et al. 1996). The pre-pregnancy genetic counselling also contributes to the discussion with mothers diagnosed with PKU, around appropriate nutrition (Hartley et al. 2011) to prevent intellectual disability, microcephaly, and congenital heart disease (CHD) resulting from untreated maternal PKU (Prick et al. 2012).

The advent of genotype-specific treatments in the field of metabolic medicine such as sapropterin, Kuvan®,(tetrahydrobiopterin) for PKU or migalastat for Fabry Disease increases the drive for genetic testing in precision medicine. Stein et al. 2017, recommend that all metabolic units have genetic counsellors embedded in their MDTs for genetic informational and support purposes, especially as rising numbers of patients opt for genetic testing. Additionally, Hartley et al. (2011) note that metabolic clinics’ structure would aid effective genetic counselling practices by enabling a longitudinal relationship to build between genetic counsellors and their patients. This survey represents a baseline to assess the impact of the integration of a genetic counsellor into the metabolic service. Since the study was conducted, a genetic counsellor has been recruited to the team to improve the awareness of genetic testing amongst the patients and the implications of their genetic diagnosis within routine metabolic clinic appointments.

This survey appreciated low response rates from male patients and partners (3.2%, 1/31) and from people of a non-Irish white background (3%, 1/31). There were no respondents from a Black, Asian, or mixed ethnic background. Due to the limited respondent numbers statistical analysis was not possible.