Database search

A total of 1948 records were retrieved through the database search. Once duplicates were removed, two reviewers (AG and CS) screened titles and abstracts then full text articles against the inclusion criteria. A total of 27 articles were included from the database search. One author (AG) undertook a bibliographic search of included articles and performed a manual search. Five additional articles met inclusion criteria. Figure 1 presents a PRISMA flow diagram of the search strategy and inclusion process.

Two articles report commentary on the same organisation. Authors of the scoping review agreed to include both articles as they provide different perspectives and report separate discussions. However, to prevent duplication, descriptions of the aspects of the MoC were extracted from Shea et al. [26] and the APN involvement was extracted from Hemenway et al. [27]

Characteristics of included articles

Articles were published between 1991 and 2024, with the majority (n = 26/32, 81%) published from 2017 onwards. Studies took place in the USA (n = 16), Australia (n = 3), Canada (n = 3), the UK (n = 2), Spain (n = 2) and one each in Brazil, Germany, Greece, Ireland, Italy and Portugal. Overall, articles were of a low level of evidence as demonstrated in Fig. 3. The study designs included chart reviews (n = 9), literature reviews (n = 8), discussion papers (n = 7), cross-sectional research (n = 3), multimethod research (n = 3), a cohort study (n = 1), and qualitative interviews (n = 1).

Fig. 3

Level of evidence of included articled based on Bittner 2014

Review findings

The findings are presented in two sections to address the two scoping review questions.

Research question 1: what aspects of models of care for children/adolescents with a p-GCR have been described in the literature?

Articles provided information that have the potential to inform key elements required to provide/facilitate optimal care delivery and models of care for this population. Further, pending the geographical location and scope of service, there were some limited descriptions of specific models of care. One example is the ‘Hub and Spoke’ model described by Llyod et al. [28] where a centralized NF1 specialty centre (the Hub) facilitated care locally and aided the provision of care through smaller centres (the Spokes) dispersed throughout the United Kingdom. Another example is the transition model described by Peron et al. [29] for adolescents moving to adult TSC services. These two examples highlight the diversity between included articles, yet al.so represent the only two articles clearly explained the model used to provide care. As such, MoC aspects have been extracted and consolidated to build an understanding of what is known in the literature (Table 1).

Table 1 Summary of findings

Thirteen aspects were extracted, each of which is described below. The aspects were: the clinic’s scope, clinic’s locality, clinicians involved, care coordination, clinic activity, geography, centralisation of care, psychosocial aspects, shared decision making, education, referrals, transition to adult services and research. These aspects fall into two broad care components: Child and Family Centred Care (CFCC) and health service provision.

Clinic’s scope (CFCC & health service provision)

The clinic’s scope was described by 21 articles in relation to the overall service provided. This was described in three key ways. First, three articles described a diagnostic service, offering genetic testing, risk evaluation, and risk reduction or surveillance recommendations, however, did not include patient follow-up [16, 30, 31]. Second, 11 articles described the clinic providing on-going medical assessments, follow-up and surveillance for children/adolescents already diagnosed with a p-GCR [5, 28, 32,33,34,35,36,37,38,39,40]. Third, seven articles included both the diagnostic service and the on-going medical follow-up in their clinic’s scope [26, 41,42,43,44,45,46].

There were differences in the types of p-GCR seen in the clinic (Fig. 2). Ten clinics focused on a specific p-GCR [26, 28, 29, 31, 32, 36, 40, 41, 43, 46], five clinics included neuroendocrine genetic cancer risks [34, 35, 37, 39, 45], while eight clinics included all types of GCR [5, 16, 18, 30, 33, 42, 47]. Huber et al. [5] documented 41 different types of GCR seen in their service, which included Trisomy 21 and neurofibromatosis type 1 (NF1). However, Groves et al. [42] excluded Trisomy 21 and NF as these populations were served by other clinics within the organisation.

Clinic’s locality (health service provision)

Departments providing the p-GCR clinic included; haematology/oncology (n = 6) [5, 18, 30, 33, 42, 44], general pediatrics (n = 3) [36, 37, 43], neurology (n = 3) [26, 29, 40] and hereditary medicine (n = 2) [18, 41]. Huber et al. [5]. explored where patients received care in a cohort of 272 individuals with a p-GCR. These patients presented to 20 different departments and 29% received care from multiple departments.

The majority of clinics were held in children hospitals (n = 13) [5, 18, 26, 32, 33, 35,36,37, 40, 42, 43, 45, 47], with six clinics held in adult hospitals [18, 29,30,31, 41, 44]. There were two articles describing a hospitals network which included both adult and children hospitals [28, 39].

Clinicians involved (health service provision)

Multiple clinicians were involved in the provision of care across clinics. The number of clinicians involved ranged from two [48] to fifteen [29]. The lead physician differed depending on the department and the type of p-GCR managed within the clinic. For example, a neurologist was described as the lead physician in a clinic seeing children/adolescents with Tuberous Sclerosis Complex through an epilepsy centre [29]. Alternatively, an oncologist was the lead physician in a clinic seeing all types of p-GCR through a pediatric oncology department [30]. Fig. 4 shows all HCPs listed in the clinics. Three studies described the benefit of patients seeing multiple care providers during a single clinic visit. This was performed either in tandem or consecutively [35, 45, 49]. The studies suggested that this led to a reduction in cancellation and ‘no-show’ rates due to patient convenience, including saving time and money, and was particularly beneficial for rural patients who have to travel long distances for these services. Groves et al. [42] reviewed the provision of allied health for children/adolescents with a p-GCR, identifying high use of physiotherapy, occupational therapy and speech therapy.

Fig. 4

p-GCR types described in clinics. NF1 = neurofibromatosis Type 1; NF2 = neurofibromatosis Type 2; TSC = Tubular Sclerosis Syndrome; FAP = Familial Adenomatous Polyposis; MEN2 = Multiple Endocrine Neoplasia type 2, PJS-Peutz-Jeghers Syndrome; LFS = Li Fraumeni Syndrome; VHL = von Hippel Lindau disease

Care coordination (CFCC & health service provision)

Care coordinators were described as important for the effective functioning of clinics. Coordinator disciplines were reported in seven clinics and varied including APNs [27, 34, 36, 41, 48], physicians [29, 45], case workers [38] or not specified [28]. Care coordinators facilitated communication between clinical teams through various methods including maintaining patient documentation, organized interdisciplinary team meetings and through direct collaboration with different clinicians for a shared patient approach [27, 38, 45]. Care coordinators prepared clinical information prior to each appointment by reviewing medical notes, collating previous results and making them available for relevant clinicians [27, 28]. Care coordinators also promoted patient compliance through regular follow up to aid with surveillance including imaging and clinic appointments [27,28,29, 45]. Hemenway et al. [27] described additional responsibilities of the nurse coordinator in establishing an NF1 multidisciplinary program. These were not listed in regular care provision in other articles and will be described further in the section on APN contribution.

The use of a data registry was described in six articles [28, 34,35,36, 41, 42]. This facilitated care delivery by having a structured way to track when surveillance events were due with alerts and reminders for the clinician coordinating care. The registry was also described in the context of prospective data collection to facilitate research, collaborations, and ongoing review of clinical processes for continual improvement.

Clinic activity aspects (health service provision)

Eight articles described the frequency of the clinic, ranging from twice weekly to four times per year [26, 28, 29, 35,36,37, 40, 43,