Specialist Genetic Services Research Articles

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. This mixed methods study explored the experiences of professionals involved in delivering the pES service during the first 2years of its delivery in the NHS. A survey (n = 159) and semi-structured interviews (n = 63) with healthcare professionals, including clinical geneticists, FM specialists, and clinical scientists (interviews only) were used to address: 1) Views on the pES service; 2) Capacity and resources involved in offering pES; 3) Awareness, knowledge, and educational needs; and 4) Ambitions and goals for the future. Overall, professionals were positive about the pES service with 77% rating it as Good or Excellent. A number of benefits were reported, including the increased opportunity for receiving actionable results for parental decision-making, improving equity of access to genomic tests and fostering close relationships between FM and genetics departments. Nonetheless, there was evidence that the shift to offering pES in a clinical setting had brought some challenges, such as additional clinic time, administrative processes, perceived lack of autonomy in decision-making regarding pES eligibility and difficulty engaging with peripheral maternity units. Concerns were also raised about the lack of confidence and gaps in genomics knowledge amongst non-genetics professionals - especially midwives. However, the findings also highlighted value in both FM, obstetric and genetics professionals benefiting from further training with a focus on recognising and managing prenatally diagnosed genetic conditions. Healthcare professionals are enthusiastic about the benefits of pES, and through multi-collaborative working, have developed relationships that have contributed to effective communication across specialisms. Although limitations on resources and variation in knowledge about pES have impacted service delivery, professionals were hopeful that improvements to infrastructure and the upskilling of all professionals involved in the pathway would optimise the benefits of pES for both parents and professionals.

“It becomes your whole life”—Exploring experiences of reciprocal translocation carriers and their partners

AbstractReciprocal translocation carriers are often diagnosed when they are experiencing difficulties conceiving or after a pregnancy affected by an unbalanced set of chromosomes inherited from the balanced carrier parent. Having a reciprocal translocation is not uncommon; carriers can benefit from reproductive options to achieve a healthy, chromosomally balanced, pregnancy. The aim of this study was to explore the lived experience of carriers and their partners. We conducted 13 semi‐structured telephone interviews. Participants were recruited through Victorian Clinical Genetics Services and interviews took place between May and September 2020. Interview transcripts were analyzed using thematic analysis. Reciprocal translocation carriers and their partners described long term emotional and reproductive impacts, with carrier status identified at the time of prenatal diagnosis having marked emotional consequences. Couples facing reproductive challenges found the diagnosis created uncertainty for their future. When considering a pregnancy, couples worried about experiencing a miscarriage; during pregnancy, there was a reluctance to have an invasive diagnostic procedure due to fearing the risk of losing an unaffected pregnancy. Adaptation to their new reality involved having access to accurate information, peer support and maintaining hope. Couples valued having the option to know the carrier status of their children. The complex impacts of carrying a reciprocal translocation highlight the importance of access to specialist genetic counseling services to ensure couples are supported in understanding the implications of their translocation

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.

Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most common referrals in the Inherited Cardiovascular Condition (ICC) Genetics Service. Several issues must be discussed with patients and their families during the genetic consultation session, including the options for genetic testing and cardiovascular surveillance in family members. We developed an ICC registry and performed next-generation-based DNA sequencing for all patients affected by non-syndromic HCM and idiopathic DCM in our joint specialist genetics service. The target gene sequencing panel relied on the Human Phenotype Ontology with 237 genes for HCM (HP:0001639) and 142 genes for DCM (HP:0001644). All subjects were asked to contact their asymptomatic first-degree relatives for genetic counseling regarding their risks and to initiate cardiovascular surveillance and cascade genetic testing. The study was performed from January 1, 2014, to December 31, 2020, and a total of 62 subjects (31-HCM and 31-DCM) were enrolled. The molecular detection frequency was 48.39% (32.26% pathogenic/likely pathogenic, 16.13% variant of uncertain significance or VUS for HCM, and 25.81% (16.13% pathogenic/likely pathogenic, 9.68% VUS) for DCM. The most prevalent gene associated with HCM was MYBPC3. The others identified in this study included ACTN2, MYL2, MYH7, TNNI3, TPM1, and VCL. Among the DCM subjects, variants were detected in two cases with the TTN nonsense variants, while the others were missense and identified in MYH7, DRSP3, MYBPC3, and SCN5A. Following the echocardiogram surveillance and cascade genetic testing in the asymptomatic first-degree relatives, the detection rate of new cases was 8.82% and 6.25% in relatives of HCM and DCM subjects, respectively. Additionally, a new pre-symptomatic relative belonging to an HCM family was identified, although the genomic finding in the affected case was absent. Thus, ICC service is promising for the national healthcare system, aiming to prevent morbidity and mortality in asymptomatic family members.

Genetic variant interpretation: a primer for clinicians.

Clinicians beyond specialist genetic services are now able to order tests to interrogate the genetic basis of disease. Behind every genetic report lies a significant body of work that draws on decades of collaboration between clinicians, researchers and database curators. Understanding these advances in genetic variant interpretation may allow practising clinicians to develop a more nuanced appreciation of the role genetic variant interpretation can play in the diagnosis and management of heritable disorders. In this article, we consider genetic variant interpretation with reference to efforts to better understand variation in the mismatch repair genes and their relation to Lynch syndrome - the most common cause of hereditary colon cancer.

A community-based co-designed genetic health service model for Aboriginal Australians.

BackgroundAboriginal and Torres Strait Islander people experience a greater burden of disease and die younger than non-Indigenous Australians, with Aboriginal people living in remote areas of the Northern Territory of Australia having the lowest life expectancy estimates. Despite a high burden of chronic disease among Aboriginal and Torres Strait Islander people, access to specialist health services remains low and models of care that increase engagement, may improve health outcomes.MethodsWe describe client and staff perspectives of a model of clinical genetics services provided by the MJD Foundation (MJDF) in geographically and culturally complex contexts within the Northern Territory of Australia. We seek to understand the MJDF model’s success in supporting Aboriginal families with the familial, neurodegenerative condition Machado-Joseph disease and how it could be applied in the provision of other specialist services. Thematic analysis was undertaken on semi-structured interviews with primary health care staff (n = 2), Non-Aboriginal MJDF Staff (n = 7) and Aboriginal MJDF Clients / Community workers (n = 13).ResultsFour key themes regarding the MJDF model of service delivery were identified with the service being; 1) client led 2) accepting of various understandings of genetic disease causation 3) focused on relationships, continuity and trust between the service provider and the clients, and 4) committed to incorporating an inclusive whole-of-family practice. The MJDF model takes a community-based, person-and family-centred approach to successfully deliver effective specialist genetic health services in remote community settings. We propose that these approaches have broad application in the future design and delivery of specialist health services particularly in culturally complex settings.

The Certainty of Uncertainty in Genomic Medicine: Managing the Challenge

While uncertainty has long been a hallmark of the practice of medicine, the need for attention to its management is gaining focus with the movement of genomic testing from the specialist genetics service into mainstream health care. Uncertainty management first requires an understanding of all of the dimensions of uncertainty including recognition of the sources (probability or risk, ambiguity and complexity), the issues (scientific, personal and practical) and the loci (patients/family/research participants, laboratory personnel, clinicians, research investigators and policy makers). At the same time, it is also important to recognise that uncertainty is not always problematic, and therefore needs to be avoided or eradicated or that its psychological impact is necessarily negative. This means that management strategies that foster resilience, welfare, autonomy and solidarity when offering genomic testing may assist in ensuring those receiving and offering genomic health care are prepared for the inevitable uncertainties generated and present results with positive framing. The genetic counseling interventions currently proposed as management strategies are underpinned by, first, pre-test counseling that addresses potential uncertainty as part of the informed consent process. Secondly, a care relationship developed at result delivery fosters trust. This may assist in continued engagement and re-contact with services to facilitate possible future resolution of the interpretation of the genomic result. Nevertheless, it is essential that any intervention is evaluated so that it can be promoted with assurance of rigor.

Journey from theory to practice: Setting up a Huntington Disease service in Romania

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder that has benefited from considerable research during the last two decades and the progress made is remarkable.Clinical diagnosis is based on symptoms and signs that include motor signs (i.e. chorea, hypokinesia, dystonia, tics), psychiatric aspects (e.g. depression, anxiety, irritability, mania, apathy, psychosis) and cognitive decline (e.g. executive functioning). The motor signs, mainly unwanted movements, remain the most characteristic and specific for a clinical diagnosis (Roos, 2014). Although the motor symptoms are immediately evident, psychiatric and cognitive symptoms contribute significantly to patients' impaired functioning and have great impact on their daily lives (Craufurd & Snowden, 2014; Tabrizi et al., 2013).Genetic testing by direct mutation analysis has been available for more than two decades (The Huntington's Disease Collaborative Research Group, 1993) and can be used either to confirm a clinical diagnosis of HD in symptomatic people or to predict whether or not an at-risk person will go on to develop HD.Currently there are a number of guidelines and standards of care available that take into account the complexity of HD and suggest best practice models for the assessment, diagnosis, management and counseling of this condition that have been shown to be effective and acceptable for patients and families (Craufurd et al., 2015; Semaka & Hayden, 2014; Losekoot et al., 2013). In fact, multidisciplinary teams in numerous centers have contributed to the significant advances we are continuously seeing in HD research and every day life of HD families. The aim of this paper is to discuss our progress in developing the first HD multidisciplinary clinic in Romania.Journey from theory to practiceProfessionals familiar with HD are very much aware of the complexity of this condition, its clinical features and the main implications for patients and families. Therefore, for most professionals it is rather reassuring to be able to rely on international guidelines when managing patients' care, to discuss challenging cases with more experienced colleagues, or to adapt existing services that are in place for similar conditions. Not being able to do either can bring one very close to helplessness.In Romania, most often, HD families see a neurologist or a psychiatrist that have seen very few HD patients their whole career. The family history is rarely available or helpful. Patients are in most cases not aware of any previous HD in the family and seem to vaguely identify relatives with dementia-like, schizophrenia-like or Parkinson's like symptoms. DNA analysis would probably be the most reasonable step at this stage; unfortunately that it is not available. The healthcare system has yet to concentrate on so many other priorities and genetic centers are not entirely functional yet. The Romanian Health Ministry has set up in 2014 a national network for genetic medicine that includes six regional centers (Ministerial order nr. 1358/2014). The centers struggle to become fully functional because of insufficient funding, equipment and expertise. Specialist outpatient clinics are another problematic aspect as they are not available in each center, which clearly makes patients' access to adequate healthcare difficult. Having said that, it is no surprise that there is no national or regional registry for most genetic conditions and very few specialist genetic services are in place (none for HD).In our country, generally, a patient with HD symptoms is referred to a neurology or psychiatry service, depending on their symptoms, and is treated as a neurological or psychiatric patient. Diagnosis is most often confirmed with genetic testing which is not funded and is only available in private practice (the cost for genetic testing for HD is around 100 Eur). Once the diagnosis is confirmed, most patients are treated under the care of a psychiatrist or a neurologist. …

Mainstreaming cancer genetics: A model integrating germline BRCA testing into routine ovarian cancer clinics

ObjectiveOwing to the rapid increase in clinical need, we aimed to implement and review the performance of a mainstreaming model of germline BRCA1/2 genetic testing in eligible women with high grade non-mucinous epithelial ovarian cancer via a Genetic Counselor embedded in the gynecology oncology clinic. MethodsThe model implemented involved a specialized referral form, weekly genetics-lead multidisciplinary review of referrals, and pre- and post-test genetic counseling provided by an embedded genetic counselor during chemotherapy chair time. Performance and outcomes were retrospectively audited over the following two consecutive one year periods, including survey data on medical specialist comfort with mainstreaming and the model. ResultsSixty-four women underwent mainstreamed BRCA1/2 testing over the two year post-implementation period with a rate of detection of BRCA1/2 pathogenic variants of 17%. The referral rate for eligible women significantly increased to over 90% (p<0.001). The median time from referral to delivery of genetic testing results was less than five months, with >90% of patients receiving results during first line chemotherapy. Genetic counseling time decreased from 120 to 54min. Cancer specialists were comfortable with the model. ConclusionsThe mainstreaming model proved effective, increasing uptake of genetic testing in eligible patients to over 90%; it was efficient for patients, genetic counselors and cancer specialists and acceptable to cancer specialists. It facilitated co-location of genetic and oncology service delivery but separation of clinical responsibility for genetic testing to a specialist genetics service, ensuring accurate and robust patient-centred care.

Building the Genetic Counsellor Profession in the United Kingdom: Two Decades of Growth and Development

Building the Genetic Counsellor Profession in the United Kingdom: Two Decades of Growth and Development

A primary care specialist genetics service: a cluster-randomised factorial trial.

GPs do not have the confidence to identify patients at increased genetic risk. A specialist primary care clinical genetics service could support GPs with referral and provide local clinics for their patients. To test whether primary care genetic-led genetics education improves both non-cancer and cancer referral rates, and primary care-led genetics clinics improve the patient pathway. Cluster-randomised factorial trial in 73 general practices in the south of England. Practices randomised to receive case scenario based seminar (intervention) or not (control), and referred patients a primary (intervention) or secondary (control) care genetic counsellor (GC)-led appointment. GP referral and clinic attendance rates (primary), appropriate cancer and case scenario referral rates, patient satisfaction, clinic costs, and case management (secondary). Eighty-nine and 68 referrals made by 36 intervention and 37 control practices respectively. There was a trend towards an overall higher referral rate among educated GPs (referral rate ratio [RRR] 1.34, 95% confidence interval [CI] = 0.89 to 2.02; P = 0.161), and they made more appropriate cancer referrals (RRR 2.36, 95% CI = 1.07 to 5.24; P = 0.035). No indication of difference in clinic attendance rates (odds ratio 0.91, 95% CI = 0.43 to 1.95; P = 0.802) or patient satisfaction (P = 0.189). Patients spent 49% less travelling (£3.60 versus £6.62; P<0.001) and took 33% less time (39.7 versus 57.7 minutes; P<0.001) to attend a primary than secondary care appointment; 83% of GC-managed appointments met the 18-week referral to treatment, NHS target. An integrated primary care genetics service both supports GPs in appropriate cancer referral and provides care in the right place by the right person.

E-genetics: exploring the acceptability and feasibility of using technology in cancer genetics services

The use of information and communication technologies (ICTs) in the delivery of cancer genetics services could improve equality of access in rural areas and help meet the increasing demand for specialist genetics services. An online patient survey and focus groups with patients and staff from the Cancer Genetics Service for Wales (CGSW) were used to explore the acceptability and feasibility of utilizing ICTs within genetics services, which we have termed e-genetics. A total of 225 patients completed the online survey. Many aspects of e-genetics proposed in the survey were highly acceptable to patients, including an electronic version of the family history questionnaire, an email facility for cancer genetic queries, and a computerized decision-aid. Participants in the focus groups emphasized the importance of patient choice when developing new models of service delivery. For example, the use of genetic counselling via telemedicine was not considered to be preferable to face-to-face clinic appointments but could benefit those unable to travel. This article highlights the fact that e-genetics initiatives may not be appropriate for all cancer genetics service users. However, user-friendly developments that can be easily implemented and attend to individual needs could improve efficiency and cost-effectiveness, whilst providing high-quality services to remote areas.

Genetic risks and healthy choices: creating citizen‐consumers of genetic services through empowerment and facilitation

Genetic testing to identify susceptibility to a variety of common complex diseases is increasingly becoming available. In this article, focusing on the development of genetic susceptibility testing for diet-related disease, I examine the emergence of direct-to-the-consumer genetic testing services and the (re)configuration of healthcare provision, both within and outside the specialist genetics service, in the UK. I identify two key techniques within these practices: empowerment and facilitation. Using Foucauldian social theory, I show that empowerment and facilitation are being positioned as tools for the creation of citizen-consumers who will make appropriate dietary choices, based on the results of their genetic analysis. Through these techniques, individuals are transformed into properly entrepreneurial citizens who will, through judicious choices, act to maximise their 'vital capital' (their health) and the capital of the social body. I argue that the user of these services is not purely an economic figure, making rational choices as a consumer, but that her configuration as a citizen-consumer who avails herself of genetic information and services in a proper manner ensures that she is fit to contribute to the economic life of our present.

Genetics in ophthalmology: equity in service provision?

Scientific advances in the understanding of the molecular biology of inherited eye conditions now allow more effective diagnosis and management for patients and families. For translation into clinical practice, it is vital that specialist services are developed with the necessary multi-disciplinary expertise, investigatory resources and organizational arrangements. We investigate the equity of specialist provision in the UK and make recommendations for service development. A questionnaire survey was carried out of all providers of specialist genetic services in the UK. Results were analysed by provider, catchment population and Strategic Health Authority population. Nineteen specialist services were identified. Provision of annual out-patient clinics and medical consultant sessions varied widely with many small services lacking full multi-disciplinary teams. There was an 8-fold regional variation in patient activity. Across the UK, we estimated an annual shortfall of 1000 new patient referrals. There should be a national programme of strategic planning of specialist genetic ophthalmology services. Necessary elements will include service specifications and standards, overall number and configuration of services, models which maximize the efficiency of use of specialist genetics elements and education of specialist and general ophthalmologists in genetics elements of their specialty.

Developing a curriculum statement based on clinical practice: genetics in primary care.

Advances in medical genetics are increasingly being incorporated into clinical management outside specialist genetic services. This study was therefore undertaken to develop learning outcomes in genetics for general practice specialty training, using methods to ensure the knowledge, skills, and attitudes relevant to genetics in primary care were identified. To identify key knowledge, skills, and attitudes in genetics and to synthesise these into learning outcomes to assist training in genetics for primary care. Delphi survey and review by expert group. Primary care practices and Regional Genetics Centre in the West Midlands region of the UK. A modified Delphi survey involved GP trainers, programme directors, and geneticists (n = 60). The results, along with results from a survey of GP registrars, were reviewed by an expert group, which included GPs, geneticists, and educationalists. Core genetics topics for GPs were identified, prioritised, and developed into competency statements in the style of the curriculum structure of the Royal College of General Practitioners. The development of the GP curriculum statement Genetics in Primary Care was based on a study of educational needs, incorporating the views of practitioners (GP trainers, programme directors, and registrars) and specialists (clinical geneticists). This inclusive approach has enabled the identification of learning outcomes which directly reflect clinical practice.

The development of core learning outcomes relevant to clinical practice: identifying priority areas for genetics education for non-genetics specialist registrars

Advances in medical genetics are increasingly impacting on clinical practice outside specialist genetic services. It is widely acknowledged that physicians will need to use genetics knowledge and skills in order to incorporate these advances into patient care. In order to determine priority areas for genetics education for non-genetics specialist registrars, an educational needs assessment was undertaken. Consultants from cardiology, dermatology, neurology and genetics identified genetics knowledge, skills and attitudes required by non-genetics specialty trainees. From these, and informed by trainees' views of genetic education, six genetics learning outcomes that non-genetics medical specialty trainees should attain by the end of their training have been identified, each linked to core knowledge, skills and attitudes. These core concepts can be taught with reference to specialty-specific conditions to highlight their relevance to clinical practice. The results of this study are informing the genetic component of postgraduate medical training curricula.

Genetics Education for Health Professionals: Strategies and Outcomes from a National Initiative in the United Kingdom

The National Health Service (NHS) National Genetics Education and Development Centre was established by the Department of Health in 2004 to help drive and co-ordinate genetics education for health professionals working outside specialist genetic services. This paper reviews the experiences and lessons learned to date. At the outset, it was clear that understanding the learning ethos, preferred delivery methods and attitudes towards genetics of different NHS healthcare groups was vital. We collected evidence by undertaking needs assessments with educators, practitioners and patients. We have determined the genetics knowledge, skills and attitudes which they said were needed and translated these into learning outcomes and workforce competences in a continuum of education. Beginning with core concepts introduced (and examined) pre-registration, the continuum continues with development of concepts post-registration as appropriate for role, leading to practical application and assessment of competences in the workplace. These are supported by a portfolio of resources which draw heavily on patient based scenarios to demonstrate to staff that genetics is relevant to their work, and to convince educators and policy makers that genetic education is likely to result in real clinical benefit. A long term educational policy, inclusive of learners, educationalists and their institutions must be evidence based, flexible and responsive to changes in workforce structure, provision of clinical services and conceptual and financial commitments to education. The engagement of national policy, regulatory and professional bodies is vital (www.geneticseducation.nhs.uk).

Midwives’ views of the importance of genetics and their confidence with genetic activities in clinical practice: implications for the delivery of genetics education

Aims and objectives. The aim of the study was to ascertain the level of importance midwives attach to integrating genetics into midwifery care and to compare that with their self‐reported level of confidence in incorporating genetics into their clinical practice.Background. Previous work has shown that many midwives feel ill‐prepared for the increased integration of genetics into clinical practice and often only limited genetics education provision is in place. With the application of genetics to midwifery practice increasing, it is important that midwives develop their knowledge and skills to meet this growing clinical role. This study was therefore developed to ascertain the attitudes and educational needs of midwives by exploring genetic issues likely to arise in clinical practice and the confidence individuals felt in dealing with them.Design. A survey questionnaire with open and closed questions.Methods. All midwives working in four National Health Service trusts (n = 817) were invited to self‐complete the validated questionnaire anonymously. Data were collected on demographics and preferred continued professional development options for future educational programme development. Likert scales were used to rate the importance of genetic activities and midwives’ confidence to perform them based on the genetic activities which were first listed and then presented embedded within specific clinical scenarios.Results. The response rate was 51% (n = 416). The majority of midwives felt that genetics was important but many did not feel confident about integrating it into their clinical practice. Across all scenarios &gt;60% of midwives were not confident on any risk identification or risk communication activities. The majority of midwives were receptive to genetics education particularly if delivered from a clinical rather than a psychosocial or scientific perspective.Conclusion. This study demonstrates the need for midwives’ pre‐ and postregistration education to include clinically relevant genetics. The evidence presented here can inform the design, development and delivery of future educational initiatives.What this study adds. This study was the first to identify the educational needs of midwives related to integrating genetics into midwifery clinical practice. It provides evidence of key topics to be included in educational programmes: referring to specialist genetics services, genetic testing, risk and communicating genetic information. It shows the type and format of course preferred by clinically based midwives: interactive workshops and lectures using clinical patient‐based case examples will attract midwives to participate and will be better received by their managers.Relevance to clinical practice. Midwives view genetics as important in their clinical practice. However, they have little confidence in their ability to integrate genetic activities in their current clinical practice. Midwives are receptive to additional genetics education and training. Antenatal and community‐based midwives could be targeted initially. Organizers must be responsive to work patterns in planning education sessions, and encourage and support champions from previous courses and specialist areas to promote genetics education in maternity units.

Competences, education and support for new roles in cancer genetics services: outcomes from the cancer genetics pilot projects

In 2004 the Department of Health in collaboration with Macmillan Cancer Support set up service development projects to pilot the integration of genetics in mainstream medicine in the area of cancer genetics.In developing these services, new roles and responsibilities were devised that required supporting programmes of education and training. The NHS National Genetics Education and Development Centre has worked with the projects to draw together their experience in these aspects. New roles include the Cancer Family Nurse Specialist, in which a nurse working in a cancer setting was trained to identify and manage genetic or family history concerns, and the Genetic Risk Assessment Practitioner--a small team of practitioners working within a secondary care setting to deliver a standardised risk assessment pathway. Existing roles were also adapted for a different setting, in particular the use of genetic counsellors working in a community ethnic minority setting. These practitioners undertook a range of clinical activities that can be mapped directly to the 'UK National Workforce Competences for Genetics in Clinical Practice for Non-genetics Healthcare Staff' framework developed by Skills for Health and the NHS National Genetics Education and Development Centre (2007; draft competence framework). The main differences between the various roles were in the ordering of genetic tests and the provision of advice on invasive preventive options such as mastectomy. Those involved in service development also needed to develop competences in project management, business skills, audit and evaluation, working with users, general management (personnel, multi-agency work and marketing), educational supervision, IT, public and professional outreach, and research. Important resources to support the development of new roles and competences included pathways and guidelines, a formal statement of competences, a recognised syllabus, appropriate and timely courses, the availability of a mentor, supervision and opportunities to discuss cases, a formal assessment of learning and continuing support from specialist genetics services. This represents a current resource gap that will be of concern to cancer networks and a challenge to providers of educational resources and regional genetics services.

Genetics Support to Primary Care Practitioners—A Demonstration Project

Primary care practitioners need to be supported by specialist genetics services to enable them to cope effectively with the expanding relevance of genetics to their patients. Genetic counselors could be effective in such a role. This exploratory project set out to improve the Primary-Tertiary interface through piloting such a service to general practice for 1 year. Tailored genetic educational outreach was delivered by a genetic counselor to ten randomly selected general practices in central England for 12 months. A range of services were provided to the practices these included facilitated genetic update sessions, a responsive advice service and referral guidelines. The service was evaluated through pre and post intervention questionnaires and via seven semi-structured interviews. This article presents a description of the development and delivery of this service and also reports on the experiences of a sample of the participants. Participants reported positive attitudes to the service and said that they had gained knowledge and confidence, as well as recognized limitations and gaps in their current knowledge. The consistent link with a specialist genetics service provided by a genetic counselor had a positive impact during the project and participants have continued to utilize the genetic counselor for advice and support with genetic patient issues since the project was completed. This is the first example of this model of service provision. Further research, utilizing a larger sample and other measures of behavioral change needs to be carried out to assess whether this model should be adopted on a wider basis.

Feasibility and Acceptability of Providing Nurse Counsellor Genetics Clinics in Primary Care

Increasing referrals to specialist genetics services have precipitated a review of models of service delivery in the United Kingdom. Little is known about whether a change in clinic location is feasible or acceptable for the patients seen. We consider the feasibility of genetics service development and delivery in primary care and develop a questionnaire to evaluate acceptability and cost to patients.Between July 2003 and May 2004, 64 primary care appointments with a genetics nurse counsellor were offered to patients referred and registered with selected general practices. 45 (79%) patients attended their appointment and 34 (77%) returned their follow‐up questionnaire. Total mean satisfaction score was high and patients were most satisfied with the information and affective domains of the appointment. 48% of patients seen by the genetics nurse counselor remained in primary care. Patients were satisfied with the travel time and distance to clinic and patient clinic costs were limited. This study shows that patients do attend genetics nurse counselor clinics in primary care, and are satisfied with the new location. A large cluster randomized controlled trial is now being conducted to obtain a controlled comparison of acceptability to patients of attending clinics in primary vs. secondary care settings.