Nongenetic Specialists Research Articles

Facial Features of Hereditary Cancer Predisposition.

In the age of telehealth medicine, an individual's facial features may provide the only physical clues signaling the presence of a heritable cancer predisposition syndrome. These syndromes include APC-associated polyposis, Birt-Hogg-Dubé syndrome, CYLD cutaneous syndrome, hereditary leiomyomatosis and renal cell cancer, multiple endocrine neoplasia, neurofibromatosis type 1, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and tuberous sclerosis complex 1 and 2, among others. Correctly identifying characteristic features is important for genetic and nongenetic specialists as early detection can enable prompt intervention, improving patient outcomes. Advancements in the availability of genetic testing allow patients and their relatives to have more information about their genetic risk profile than before. These changes in clinical pathways, combined with improvements in screening and risk-reducing treatment, highlight the need to outline the cutaneous and morphologic features of high-risk cancer syndromes for clinicians. In this review, we describe the important facial features of hereditary cancer predisposition, with emphasis on diagnosis, cutaneous and extracutaneous manifestations, and screening.

Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma.

Genetic testing for hereditary cancers can improve long-term health outcomes through identifying high-risk individuals and facilitating targeted prevention and screening/surveillance. The rising demand for genetic testing exceeds the clinical genetic workforce capacity. Therefore, non-genetic specialists need to be empowered to offer genetic testing. However, it is unknown whether patient outcomes differ depending on whether genetic testing is offered by a genetics specialist or a trained non-genetics clinician. This paper describes a protocol for upskilling non-genetics clinicians to provide genetic testing, randomise high-risk individuals to receive testing from a trained clinician or a genetic counsellor, and then determine whether patient outcomes differed depending on provider-type. An experiential training program to upskill dermatologically-trained clinicians to offer genetic testing for familial melanoma is being piloted on 10-15 clinicians, prior to wider implementation. Training involves a workshop, comprised of a didactic learning presentation, case studies, simulated sessions, and provision of supporting documentation. Clinicians later observe a genetic counsellor led consultation before being observed leading a consultation. Both sessions are followed by debriefing with a genetic counsellor. Thereafter, clinicians independently offer genetic testing in the clinical trial. Individuals with a strong personal and/or family history of melanoma are recruited to a parallel-group trial and allocated to receive pre- and post- genetic testing consultation from a genetic counsellor, or a dermatologically-trained clinician. A mixed method approach measures psychosocial and behavioural outcomes. Longitudinal online surveys are administered at five timepoints from baseline to one year post-test disclosure. Semi-structured interviews with both patients and clinicians are qualitatively analysed. This is the first program to upskill dermatologically-trained clinicians to provide genetic testing for familial melanoma. This protocol describes the first clinical trial to compare patient-reported outcomes of genetic testing based on provider type (genetic counsellors vs trained non-genetic clinicians).

A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland.

Background: The UK 100,000 Genomes Project was a transformational research project which facilitated whole genome sequencing (WGS) diagnostics for rare diseases. We evaluated experiences of introducing WGS in Northern Ireland, providing recommendations for future projects. Methods: This formative evaluation included (1) an appraisal of the logistics of implementing and delivering WGS, (2) a survey of participant self-reported views and experiences, (3) semi-structured interviews with healthcare staff as key informants who were involved in the delivery of WGS and (4) a workshop discussion about interprofessional collaboration with respect to molecular diagnostics. Results: We engaged with >400 participants, with detailed reflections obtained from 74 participants including patients, caregivers, key National Health Service (NHS) informants, and researchers (patient survey n = 42; semi-structured interviews n = 19; attendees of the discussion workshop n = 13). Overarching themes included the need to improve rare disease awareness, education, and support services, as well as interprofessional collaboration being central to an effective, mainstreamed molecular diagnostic service. Conclusions: Recommendations for streamlining precision medicine for patients with rare diseases include administrative improvements (e.g., streamlining of the consent process), educational improvements (e.g., rare disease training provided from undergraduate to postgraduate education alongside genomics training for non-genetic specialists) and analytical improvements (e.g., multidisciplinary collaboration and improved computational infrastructure).

A systematic review and meta-analysis of genetic assessment for women with ovarian cancer: how can we do better?

<h3>Objectives:</h3> Despite clear consensus guidelines recommending universal germline genetic testing in ovarian cancer patients and a growing appreciation of the significant health implications for patients and their relatives, fewer than 50% of women with ovarian cancer undergo genetic testing. We aim to use systematic review and meta-analysis to assess the status of genetic testing in ovarian cancer and identify strategies that can improve uptake of genetic assessment in this high-risk population. <h3>Methods:</h3> A complete systematic search of online databases (PubMed, EMBASE, MEDLINE, and the Cochrane Library) for studies reporting on genetic testing in ovarian cancer without date restriction was performed. Random effects pooled proportions were calculated using the logit transformation and 95% confidence intervals for individual study proportions were calculated using the Clopper-Pearson exact method. <h3>Results:</h3> The comprehensive search produced 3026 studies, among which 38 met inclusion criteria. Among studies listing mean age of diagnosis, stage, and histology data, the median of the mean age of diagnoses across the studies was 60.5 years. The median proportion of patients with early stage (I/II) ovarian cancer was 22.8%, late stage (III/IV) 70%, and unknown stage 3.6%. The median proportion of patients with serous histology was 74.6%, endometrioid 8.6%, mucinous 6%, clear cell 7%, mixed 3.6%, carcinosarcoma 3.4%, adenocarcinoma 5.8%, and other/unknown histology 7.9%. Twenty-one papers described rates of referral to genetic counseling and found, among 9,629 women, a referral rate of 56% [CI 32-78%]. Twenty-three papers described genetic testing uptake without a specified intervention and found, among 16,412 women, 34% [CI 23-47%] underwent genetic testing (Figure 1). For patients completing genetic testing, 27% [CI 22-32%] had a pathogenic mutation and 7% [CI 3-16%] a variant of uncertain significance. The most successful strategy aimed at improving rates of genetic testing was ‘mainstreaming,' the process of providing counseling and testing in the oncology clinic by trained non-genetics specialists. With mainstreaming, 99% [CI 86-100%] of patients completed genetic testing. Other strategies described in the literature included the use of telemedicine for genetic services (75% underwent genetic testing [CI 43-93%]), embedding a genetic counselor in the clinic (67% [CI 32-90%]), reflex somatic tumor <i>BRCA1/2</i> testing to triage to germline testing (64% [17-94%]), practice recommendation for universal testing of all ovarian cancer patients (42% [CI 15-74%]), and incorporating dedicated referral forms into practice (26% [CI 10-53%]). <h3>Conclusions:</h3> Identifying causative germline mutations in ovarian cancer can impact treatment decisions, inform risk of other malignancies and guide disease prevention and early detection in at-risk relatives. Rates of both referral to genetic counseling and testing remain low, 56% and 34% respectively, despite broad recommendations for universal testing. Mainstreaming, use of telemedicine, embedding genetic counselors in the clinic, and triage via reflex somatic <i>BRCA1/2</i> assessment are all strategies demonstrating success in this patient population and should be considered for those providing care to women with ovarian cancer.

Genetic counselors, patients', and carers' views on an Australian clinical genetics service information system.

The Genetic Information System (GIS) is an Australian database of family genetic information. This health information technology system has been used by all 31 publicly operated clinical genetics services across New South Wales (NSW) and the Australian Capital Territory (ACT) for over a decade. As these services are separated geographically, the linkage engendered by the GIS facilitates the services to operate as a virtual state-wide service. This study aimed to explore the views of genetic counselors, patients, and carers on the use and storage of family genetic information in the GIS. Data were collected using audio-recorded semi-structured telephone interviews with genetic counselors experienced with using the GIS and focus groups with past patients/carers of the services. Using thematic analysis, four themes were identified from genetic counselor participant interviews (n=12): (a) Shared information is valuable; (b) inconsistent data entry provides a challenge; (c) perceived need for the GIS to be current and integrated with other health systems; and (d) future challenges and strategies for the GIS. Three themes were identified following three focus groups with consumer participants (n=14): (a) access to family genetic information provides a 'clearer picture'; (b) support, but caution, concerning use of information for relatives' health care; and (c) stewardship of family information. Genetic counselors and consumers identified similar advantages and privacy concerns regarding the sharing of family genetic information and all participants wanted patients/carers to be better informed about the GIS early in the genetic counseling process. Consumers were reassured by genetics health professionals' stewardship of their information, but surprised the GIS was not available nationally or for private geneticists or certain non-genetic specialists. These findings may inform further development of the GIS and other clinical genetic databases and lead to increased patient/carer knowledge through education and resource development.

The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing

PurposeClinical utility describes a genetic test’s value to patients, families, health-care providers, systems, or society. This study aims to define clinical utility from the perspective of clinicians and develop a novel outcome measure that operationalizes this concept. MethodsItem selection for the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) was informed by a scoping review of the literature. Item reduction was guided by qualitative and quantitative feedback from semistructured interviews and a cross-sectional survey of genetics and nongenetics specialists. Final item selection, index scoring, and structure were guided by feedback from an expert panel of genetics professionals. ResultsA review of 194 publications informed the selection of a preliminary set of 25 items. Feedback from 35 semistructured interviews, 113 surveys, and 11 expert panelists informed the content and wording of C-GUIDE’s final set of 18 items that reflect on the utility of testing related to diagnosis, management, and familial/psychosocial impact. C-GUIDE achieves content and face validity for use in a range of diagnostic genetic testing settings. ConclusionWork to establish reliability and construct validity is underway. C-GUIDE will be useful in comparative studies to generate policy-relevant evidence pertaining to the clinical utility of genetic testing across a range of settings.

Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management.

Background: Noninvasive prenatal screening (NIPS) utilization has grown dramatically and is increasingly offered to the general population by nongenetic specialists. Web-based technologies and telegenetic services offer potential solutions for efficient results delivery and genetic counseling.Introduction: All major guidelines recommend patients with both negative and positive results be counseled. The main objective of this study was to quantify patient utilization, motivation for posttest counseling, and satisfaction of a technology platform designed for large-scale dissemination of NIPS results.Methods: The technology platform provided general education videos to patients, results delivery through a secure portal, and access to telegenetic counseling through phone. Automatic results delivery to patients was sent only to patients with screen-negative results. For patients with screen-positive results, either the ordering provider or a board-certified genetic counselor contacted the patient directly through phone to communicate the test results and provide counseling.Results: Over a 39-month period, 67,122 NIPS results were issued through the platform, and 4,673 patients elected genetic counseling consultations; 95.2% (n = 4,450) of consultations were for patients receiving negative results. More than 70% (n = 3,370) of consultations were on-demand rather than scheduled. A positive screen, advanced maternal age, family history, previous history of a pregnancy with a chromosomal abnormality, and other high-risk pregnancy were associated with the greatest odds of electing genetic counseling. By combining web education, automated notifications, and telegenetic counseling, we implemented a service that facilitates results disclosure for ordering providers.Discussion: This automated results delivery platform illustrates the use of technology in managing large-scale disclosure of NIPS results. Further studies should address effectiveness and satisfaction among patients and providers in greater detail.Conclusions: These data demonstrate the capability to deliver NIPS results, education, and counseling—congruent with professional society management guidelines—to a large population.

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

PurposeIn response to genetic testing being widely ordered by nongenetics clinicians, the Consent and Disclosure Recommendations (CADRe) Workgroup of the Clinical Genome Resource (ClinGen; clinicalgenome.org) developed guidance to facilitate communication about genetic testing and efficiently improve the patient experience. Considering ethical, legal, and social implications, and medical factors, CADRe developed and pilot tested two rubrics addressing consent for genetic testing and results disclosure. The CADRe rubrics allow for adjusting the communication approach based on circumstances specific to patients and ordering clinicians. MethodsWe present results of a formative survey of 66 genetics clinicians to assess the consent rubric for nine genes (MLH1, CDH1, TP53, GJB2, OTC; DMD, HTT, and CYP2C9/VKORC1). We also conducted interviews and focus groups with family and patient stakeholders (N = 18), nongenetics specialists (N = 27), and genetics clinicians (N = 32) on both rubrics. ResultsFormative evaluation of the CADRe rubrics suggests key factors on which to make decisions about consent and disclosure discussions for a “typical” patient. ConclusionWe propose that the CADRe rubrics include the primary issues necessary to guide communication recommendations, and are ready for pilot testing by nongenetics clinicians. Consultation with genetics clinicians can be targeted toward more complex or intensive consent and disclosure counseling.

Moving into the mainstream: healthcare professionals\u2019 views of implementing treatment focussed genetic testing in breast cancer care

A proportion of breast cancers are attributable to BRCA1 or BRCA2 mutations. Technological advances has meant that mutation testing in newly diagnosed cancer patients can be used to inform treatment plans. Although oncologists increasingly deliver treatment-focused genetic testing (TFGT) as part of mainstream ovarian cancer care, we know little about non-genetics specialists’ views about offering genetic testing to newly diagnosed breast cancer patients. This study sought to determine genetics and non-genetics specialists’ views of a proposal to mainstream BRCA1 and 2 testing in newly diagnosed breast cancer patients. Qualitative interview study. Nineteen healthcare professionals currently responsible for offering TFGT in a standard (triage + referral) pathway (breast surgeons + clinical genetics team) and oncologists preparing to offer TFGT to breast cancer patients in a mainstreamed pathway participated in in-depth interviews. Genetics and non-genetics professionals’ perceptions of mainstreaming are influenced by their views of: their clinical roles and responsibilities, the impact of TFGT on their workload and the patient pathway and the perceived relevance of genetic testing for patient care in the short-term. Perceived barriers to mainstreaming may be overcome by: more effective communication between specialities, clearer guidelines/patient pathways and the recruitment of mainstreaming champions.

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings

PurposeSecondary findings from genomic sequencing are becoming more common. We compared how health-care providers with and without specialized genetics training anticipated responding to different types of secondary findings. MethodsProviders with genomic sequencing experience reviewed five secondary-findings reports and reported attitudes and potential clinical follow-up. Analyses compared genetic specialists and physicians without specialized genetics training, and examined how responses varied by secondary finding. ResultsGenetic specialists scored higher than other providers on four-point scales assessing understandings of reports (3.89 vs. 3.42, p = 0.0002), and lower on scales assessing reporting obligations (2.60 vs. 3.51, p < 0.0001) and burdens of responding (1.73 vs. 2.70, p < 0.0001). Nearly all attitudes differed between findings, although genetic specialists were more likely to assert that laboratories had no obligations when findings had less-established actionability (p < 0.0001 in interaction tests). The importance of reviewing personal and family histories, documenting findings, learning more about the variant, and recommending familial discussions also varied according to finding (all p < 0.0001). ConclusionGenetic specialists felt better prepared to respond to secondary findings than providers without specialized genetics training, but perceived fewer obligations for laboratories to report them, and the two groups anticipated similar clinical responses. Findings may inform development of targeted education and support.

Parental Perception and Participation in Genetic Testing Among Children With Autism Spectrum Disorders

The purpose of this study was to determine the factors associated with genetic testing in children with autism spectrum disorders (ASDs) and understand parental involvement in the decision to test using survey data of parents of children with ASD. Evaluation by a geneticist was associated with genetic testing by more than 39 times compared to evaluation by a nongeneticist (95% CI = 9.15-168.81). Those offered testing by the physicians were more than 6 times more likely to be tested than those not offered testing (95% CI = 1.66-24.61). Financial concerns, not being offered testing, and lack of awareness were the most consistent reasons for not testing given by participants. A physician's recommendation for testing and an evaluation by a geneticist were the most important factors associated with genetic testing in children with ASD. Educating primary care physicians and nongenetic specialists can potentially improve genetic testing among children with ASD.

Abstract P4-06-09: Addition of a remote genetic counselor to the breast specialist's team improves clinical decision-making

Abstract Background: There is a shortage of trained genetic counselors (GC) and often long wait times for appointments, resulting in other specialists frequently ordering genetic testing. However, non-genetic specialists, including breast surgeons, find it difficult to stay current in genetics due to rapid advances in gene discovery, expanded panel offerings, and frequent changes to professional guidelines. We tested a novel model for hereditary cancer risk assessment where breast surgeons had “on demand” access to a remote laboratory-based genetic counselor for peer to peer consultation. In this study we sought to determine the impact this model has on breast surgeons' routinely ordering genetic testing including test identification, ordering patterns, and medical management. Methods: An IRB approved multi-center prospective study involved 14 community-based breast cancer surgeons experienced with hereditary cancer risk assessment without a genetic counselor as part of their practice. Cases were all discussed with a remote Invitae GC to determine testing eligibility and selection. Physicians had the option to utilize remote GCs to discuss results or to refer to traditional genetic counseling services. Pre and post-test surveys were completed for each patient by the testing physician. To protect patient privacy, a unique case ID was used to link patient test data with identifying data. Results: A total of 192 patients were evaluated with median age of 52. Risk assessment via BRCAPRO and the Hughes Risk model were performed on 98% of patients by the physicians. 65% of patients met NCCN guidelines for testing. Pathogenic mutations were found in 14% of patients. Breast surgeons changed their test selection 21% of the time after discussion with a GC. They called to discuss results in 47% of cases and medical management changes were incorporated in 15% of these cases based on discussion with a remote GC. Conclusions: Remote GC provider support assisted physicians in facilitating customized test selection, aided in navigating challenging counseling cases, and impacted clinical management. This service may serve as a viable, effective model for 'on demand' genetic counseling support and may be a novel opportunity to expand genetic testing in a breast surgery setting. Citation Format: Rosen B, O'Leary E, Shan Y, Pat W, Peter B. Addition of a remote genetic counselor to the breast specialist's team improves clinical decision-making [abstract]. In: Proceedings of the 2017 San Antonio Breast Cancer Symposium; 2017 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2018;78(4 Suppl):Abstract nr P4-06-09.

A primer to clinical genome sequencing.

Genome sequencing is now available as a clinical diagnostic test. There is a significant knowledge and translation gap for nongenetic specialists of the processes necessary to generate and interpret clinical genome sequencing. The purpose of this review is to provide a primer on contemporary clinical genome sequencing for nongenetic specialists describing the human genome project, current techniques and applications in genome sequencing, limitations of current technology, and techniques on the horizon. As currently implemented, genome sequencing compares short pieces of an individual's genome with a reference sequence developed by the human genome project. Genome sequencing may be used for obtaining timely diagnostic information, cancer pharmacogenomics, or in clinical cases when previous genetic testing has not revealed a clear diagnosis. At present, the implementation of clinical genome sequencing is limited by the availability of clinicians qualified for interpretation, and current techniques in used clinical testing do not detect all types of genetic variation present in a single genome. Clinicians considering a genetic diagnosis have wide array of testing choices which now includes genome sequencing. Although not a comprehensive test in its current form, genome sequencing offers more information than gene-panel or exome sequencing and has the potential to replace targeted single-gene or gene-panel testing in many clinical scenarios.

Communication challenges for nongeneticist physicians relaying clinical genomic results.

Identify the behavioral challenges to the use of genome sequencing (GS) in a clinical setting. We observed how general internists and nongenetic specialists delivered GS results to patients enrolled in the MedSeq Project. Using transcripts of such disclosure interactions, we made qualitative observations of communication behaviors that could limit the usefulness of GS results until reaching the point of thematic saturation. Findings included confusion regarding genomic terminology, difficulty with the volume or complexity of information and difficulties communicating complex risk information to patients. We observed a broad dismissal of clinical value of GS by some physicians and sometimes ineffective communication regarding health behavior change. Overcoming these behavioral challenges is necessary to make full use of clinical GS results.

Genetic and genomic investigations in the neonatal intensive care unit

Genetic testing is available and widely used in the neonatal intensive care setting for a broad range of complex presentations arising both antenatally and in the postnatal period. Here we discuss the investigations currently available to clinicians in the neonatal intensive care unit, such as array comparative genomic hybridization (aCGH), FISH (fluorescent in situ hybridization) and quantitative florescent polymerase chain reaction (QF-PCR), later looking to the future of clinical genomic testing, in the form of next generation sequencing panels (NGS panels), whole exome (WE) and whole genome (WG) sequencing. The mainstreaming of genetic medicine requires non-genetic specialists, such as neonatologists and paediatricians, to have confidence and knowledge of the testing process, the technologies available and the ethical and social considerations associated with their use.

Disparities in current and future childhood and newborn carrier identification.

International carrier testing guidelines discourage testing in childhood to preserve autonomous decision making and prevent detrimental psychosocial consequences. Despite the discouragement of autosomal recessive carrier testing during childhood, some sickle cell disease (SCD) or cystic fibrosis (CF) carriers are incidentally identified through UK and international newborn screening (NBS). This creates a scenario where parents may have knowledge of their newborn's, but not older child's carrier status. In addition, there is wide variation in the identification of CF and SCD carriers due to the screening technologies implemented by different NBS programs. The current and future availability of childhood testing are determined to some extent by the impact of testing on children and parents (whether this is beneficial or detrimental to wellbeing). However empirical research informing carrier guidance and practice is conflicting. Echoing previous calls, this discussion highlights the need for further qualitative and longitudinal research with children to consider the psychosocial impact of carrier testing on children and role of disclosure from parents on adaptation to results. It is recommended that professionals aim to minimize harms resulting from carrier identification by providing support for parents and children following NBS. Support for non-genetics specialists from genetic counselors to enable discussion of carrier results with children is suggested.

Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases.

Genetics in health care is shifting, and responsibilities of genetic and nongenetic specialists are changing, requiring new guidance on how to adapt health care to advances in genetic services. This paper explores facilitators and barriers in the process of implementation of innovations in genetic health care. Furthermore, lessons learnt for optimizing development of new genetic services are summarized. Barriers and facilitators in transition processes were identified using mixed methods, including an online open-ended questionnaire among professionals and an international expert meeting. A multi-case study approach was used to explore recent experiences with innovations in genetic services in different phases of implementation. Barriers encountered in transitions in genetic service provision include the following: lack of genetic knowledge and skills among nongenetic health care providers, resistance to new divisions of responsibilities, and a need for more close collaboration and communication between geneticists and nongeneticists. Facilitating factors include the following: statutory registration of genetic specialists, availability of essential staff and equipment, and existence of registries and guidelines. Other challenges are experienced in the establishment of the appropriate legal and financial structures. A set of points to consider for genetic innovation processes is proposed, addressing, e.g., transition management and cooperation and communication strategies.

Can breast surgeons provide breast cancer genetic testing? An American Society of Breast Surgeons survey.

Whether breast cancer surgeons are adequately trained, skilled, and experienced to provide breast cancer genetic assessment, testing, and counseling came under debate in September 2013 when a major third-party payer excluded nongenetics specialists from ordering such testing. A literature search having failed to uncover any study on breast surgeons' skill and practice in this area, the American Society of Breast Surgeons (ASBrS) surveyed its members on their experience with the recognized crucial components of such testing. In late 2013, ASBrS e-mailed a link to an online questionnaire to its U.S. members (n = 2,603) requesting a self-assessment of skills and experience in genetic assessment, testing, interpretation, and counseling. After approximately 6 weeks, the results were collated and evaluated. By January 2, 2014, 907 responses (34.84 %) had arrived from breast surgeons nationwide working in academic settings (20 %), solo or small group private practice (39 %), large multispecialty groups (18 %), and other settings. More than half said they performed 3-generation pedigrees, ordered genetic testing, and provided pre- and posttest counseling. Most noted that they would welcome continuing educational support in genetics. Currently the majority of breast surgeons provide genetic counseling and testing services to their patients. They report practices that meet or exceed recognized guidelines, including the necessary elements and processes for best practices in breast cancer genetics test counseling. Because breast cancer genetic testing is grossly underutilized relative to the size of the U.S. BRCA mutation carrier population, these appropriate services should not be restricted but rather supported and expanded.

Response to Robert G. Resta Commentary (Unprepared, Understaffed, and Unplanned: Thoughts on the Practical Implications of Discovering New Breast and Ovarian Cancer Causing Genes)

Response to Robert G. Resta Commentary (Unprepared, Understaffed, and Unplanned: Thoughts on the Practical Implications of Discovering New Breast and Ovarian Cancer Causing Genes)

Primary care physicians as providers of frontline genetic services.

Due in part to shortages of health care professionals with expertise in genetics, primary care physicians will assume a greater role in providing frontline genetic services as genetic tests for more diseases become available. I report some preliminary findings from a national survey of primary care physicians, psychiatrists, medical geneticists and genetic counselors. As expected, no group of nongenetics specialists had as much knowledge as geneticists. Nongeneticist physicians with the greatest exposure to patients with genetic problems had more knowledge than physicians without such exposure. Non-geneticist physicians were more likely to be directive in counseling than geneticists. Problems for future research are enumerated.