Stay at home: implementation and impact of virtualising cancer genetic services during COVID-19.

The COVID-19 pandemic has led to the rapid adoption of virtual clinic processes and healthcare delivery. Herein, we examine the impact of virtualising genetics services at Canada's largest cancer centre. A retrospective review was conducted to evaluate relevant metrics during the 12 weeks prior to and during virtual care, including referral and clinic volumes, patient wait times and genetic testing uptake. The number of appointments and new patients seen were maintained during virtual care. Likewise, there was a significant increase in the number of patients offered testing during virtual care who did not provide a blood sample (176/180 (97.7%) vs 180/243 (74.1%); p<0.001), and a longer median time from the date of pretest genetic counselling to the date a sample was given (0 vs 11 days; p<0.001). Referral volumes significantly decreased during virtual care (35 vs 22; p<0.001), which was accompanied by a decreased median wait time for first appointment (55 days vs 30 days; p<0.001). The rapid virtualisation of cancer genetic services allowed the genetics clinic to navigate the COVID-19 pandemic without compromising clinical volumes or access to genetic testing. There was a decrease in referral volumes and uptake of genetic testing, which may be attributable to pandemic-related clinical restrictions.

Randomized study of remote telehealth genetic services versus usual care in oncology practices without genetic counselors.

PURPOSE: To examine the benefit of telehealth over current delivery options in oncology practices without genetic counselors. METHODS: Participants meeting cancer genetic testing guidelines were recruited to this multi-center, randomized trial comparing uptake of genetic services with remote services (telephone or videoconference) to usual care in six predominantly community practices without genetic counselors. The primary outcome was the composite uptake of genetic counseling or testing. Secondary outcomes compare telephone versus videoconference services. RESULTS: 147 participants enrolled and 119 were randomized. Eighty percent of participants in the telehealth arm had genetic services as compared to 16% in the usual care arm (OR 30.52, p < 0.001). Five genetic mutation carriers (6.7%) were identified in the telehealth arm, compared to none in the usual care arm. In secondary analyses, factors associated with uptake were lower anxiety (6.77 vs. 8.07, p = 0.04) and lower depression (3.38 vs. 5.06, p = 0.04) among those who had genetic services. There were no significant differences in change in cognitive or affective outcomes immediately post-counseling and at 6 and 12 months between telephone and videoconference arms. CONCLUSION: Telehealth increases uptake of genetic counseling and testing at oncology practices without genetic counselors and could significantly improve identification of genetic carriers and cancer prevention outcomes.

Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries.

BACKGROUND: Lynch syndrome (LS), the most common inherited form of colorectal cancer (CRC), is responsible for 3% of all cases of CRC. LS is caused by a mismatch repair gene defect and is characterized by a high risk for CRC, endometrial cancer and several other cancers. Identification of LS is of utmost importance because colonoscopic surveillance substantially improves a patient's prognosis. Recently, a network of physicians in Middle Eastern and North African (ME/NA) countries was established to improve the identification and management of LS families. The aim of the present survey was to evaluate current healthcare for families with LS in this region. METHODS: A questionnaire was developed that addressed the following issues: availability of clinical management guidelines for LS; attention paid to family history of cancer; availability of genetic services for identification and diagnosis of LS; and assessment of knowledge of LS surveillance. Members of the network and authors of recent papers on LS from ME/NA and neighbouring countries were invited to participate in the survey and complete the online questionnaire. RESULTS: A total of 55 individuals were invited and 19 respondents from twelve countries including Algeria, Azerbaijan, Cyprus, Egypt, Iran, Jordan, Kuwait, Lebanon, Morocco, Palestine, Tunisia, and Turkey completed the questionnaire. The results showed that family history of CRC is considered in less than half of the surveyed countries. Guidelines for the management of LS are available in three out of twelve countries. The identification and selection of families for genetic testing were based on clinical criteria (Amsterdam criteria II or Revised Bethesda criteria) in most countries, and only one country performed universal screening. In most of the surveyed countries genetic services were available in few hospitals or only in a research setting. However, surveillance of LS families was offered in the majority of countries and most frequently consisted of regular colonoscopy. CONCLUSION: The identification and management of LS in ME/NA countries are suboptimal and as a result most LS families in the region remain undetected. Future efforts should focus on increasing awareness of LS amongst both the general population and doctors, and on the improvement of the infrastructure in these countries.

Regional models of genetic services in the United States.

PURPOSE: To outline structures for regional genetic services support centers that improve access to clinical genetic services. METHODS: A workgroup (WG) and advisory committee (AC) (1) conducted a comprehensive review of existing models for delivering health care through a regional infrastructure, especially for genetic conditions; (2) analyzed data from a needs assessment conducted by the National Coordinating Center (NCC) to determine important components of a regional genetic services support center; and (3) prioritized components of a regional genetic services support system. RESULTS: Analysis of identified priorities and existing regional systems led to development of eight models for regional genetic services support centers. A hybrid model was recommended that included an active role for patients and families, national data development and collection, promotion of efficient and quality genetic clinical practices, healthcare professional support for nongeneticists, and technical assistance to healthcare professionals. CONCLUSION: Given the challenges in improving access to genetic services, especially for underserved populations, regional models for genetic services support centers offer an opportunity to improve access to genetic services to local populations. Although a regional model can facilitate access, some systemic issues exist-e.g., distribution of a workforce trained in genetics-that regional genetic services support centers cannot resolve.

Genome sequencing in healthcare: understanding the UK general public's views and implications for clinical practice.

Technological advances have seen the offer of genome sequencing becoming part of mainstream medical practice. Research has elicited patient and health professional views on the ethical issues genome sequencing raises, however, we know little about the general public's views. These views offer an insight into people's faith in such technologies, informing discussion regarding the approach to consent in clinic. We aimed to garner public views regarding genome sequencing, incidental findings (IFs), and sharing genetic information with relatives. Participants (n = 1954) from the British general public completed a survey, distributed via email. Overall, the public had a positive view of genomic sequencing, choosing 'informative' as the most popular word (52%) and 'family legacy' as the most popular analogy (33%) representing genomic sequencing for them. Fifty-three percent  agree that their relative had the right to be told about genetic information relevant to them. Fifty-four percent would expect to be told about IFs whether they had asked for them or not. Clinical practice needs to acknowledge these perspectives and expectations in order to facilitate meaningful discussion during the consent process for genomic tests. We suggest that: (a) optimistic perspectives on the usefulness of genomic tests need to be tempered by discussion in clinic about the likelihood that genomic results might be uninformative, uncertain or unexpected; (b) discussions regarding the familial nature of results are needed before testing: the majority of patients will welcome this and any concerns can be explored further; and (c) a wider discussion is required regarding the consent approach for genomic testing.

[Congenital or Early Acquired Deafness: An Overview of the Portuguese Situation, from Diagnosis to Follow-Up]. / Surdez Congénita ou Precocemente Adquirida: Do Rastreio ao Seguimento, um Retrato de Portugal.

INTRODUCTION: Congenital deafness or early acquired deafness affects 1 to 3 out of 1000 newborns without risk factors and 20 to 40 out of 1000 newborns with risk factors. The universal newborn hearing screening enables its early identification. Children with congenital deafness/early acquired deafness have a higher prevalence of other conditions, especially ophthalmologic and neurodevelopmental ones, and at least 30% to 40% have at least one associated comorbidity. MATERIAL AND METHODS: We carried out a cross-sectional, multicenter study in which 83% (n = 30) of the hospitals/maternity hospitals of the National Health Service participated. RESULTS: All surveyed hospitals/maternity hospitals routinely performed universal newborn hearing screening to all newborns before discharge; 63% referred children with risk factors for hearing loss to Otorhinolaryngology. All children with congenital deafness/early acquired deafness are referred to: Pediatrics in 23% hospitals/maternity hospitals. In 23 hospitals/maternity hospitals, all children with congenital deafness/early acquired deafness are referred to: Speech Therapy in 44% hospitals/ maternity hospitals; Ophthalmology in 17% hospitals/maternity hospitals; National System of Early Intervention in Childhood in 30% hospitals/maternity hospitals; 22% of hospitals/maternity hospitals refer all children with congenital deafness/early acquired deafness, with no identified cause, to Clinical Genetics clinics. The number of diagnoses of deafness in the years 2014 and 2015 was 2.5 and 1.5 per 1000 newborns, respectively, in 15 hospitals/maternity hospitals. DISCUSSION: Awareness of universal newborn hearing screening seems to be widely spread in the National Health Service. The number of children with SC / SPA, as well as the percentage of different types of deafness diagnosed, were identical to those found in other studies and shows its importance. The assessment / follow-up of these children by specialties other than the otolaryngology was heterogeneous in different health entities and revealed that not all children with risk factors for deafness follow up advised by existing standards. CONCLUSION: Results show that Portugal made an important path in the screening and follow-up of children with SC / SPA. It is important, with the ultimate aim of continually improving the care of these children, to reflect on the involvement of specialties other than otolaryngology, such as the National Early Childhood Intervention System in the follow-up of these children.

Introdução: A surdez congénita ou precocemente adquirida afeta 1 a 3 por cada 1000 recém-nascidos sem fatores de risco e 20 a 40/1000 com fatores de risco. O rastreio auditivo neonatal universal permite a sua identificação precoce. As crianças com surdez congénita/precocemente adquirida têm uma maior prevalência de outras patologias, especialmente oftalmológicas e do neurodesenvolvimento, tendo pelo menos 30% a 40% uma comorbilidade associada.Material e Métodos: Realizámos um estudo transversal, multicêntrico onde participaram 83% (n = 30) dos hospitais/maternidades do Serviço Nacional de Saúde.Resultados: Todos os hospitais/maternidades inquiridos realizam, por rotina, o rastreio auditivo neonatal universal a todos os recém-nascidos antes da alta; 63% encaminham para Otorrinolaringologia crianças com fatores de risco de surdez. Todas as crianças com surdez congénita/precocemente adquirida são encaminhadas para Pediatria em 23% hospitais/maternidades. Em 23 hospitais/maternidades todas as crianças com surdez congénita/precocemente adquirida são encaminhadas para: Terapia da Fala em 44% hospitais/maternidades; Oftalmologia em 17% hospitais/maternidades; Sistema Nacional de Intervenção Precoce na Infância (SNIPI) em 30% hospitais/maternidades; referenciação para Genética de todas as crianças com surdez congénita/ precocemente adquirida, sem causa identificada, em 22% hospitais/maternidades. O número de diagnósticos de surdez nos anos de 2014 e 2015 foi de 2,5 e 1,5 por cada1000 recém-nascidos, respetivamente, em 15 dos  hospitais/maternidades.Discussão: O rastreio auditivo neonatal universal parece estar amplamente difundido no Serviço Nacional de Saúde. O número de crianças com SC/SPA tal como a percentagem dos diferentes tipos de surdez diagnosticados, foram idênticos aos encontrados noutros estudos e mostra a indiscutível importância do rastreio. A avaliação/acompanhamento destas crianças por outras especialidades, além da Otorrinolaringologia, mostrou-se heterogéneo nas diferentes entidades de saúde e revelou que nem todas as crianças com fatores de risco de surdez realizam o seguimento aconselhado pelas normas existentes.Conclusão: Os resultados mostram que Portugal realizou um percurso importante no âmbito do rastreio e seguimento das crianças com SC/SPA. Importa, com o fim último da melhoria continua da prestação de cuidados a estas crianças, refletir sobre o envolvimento de outras especialidades, além da Otorrinolaringologia, tal como do Sistema Nacional de Intervenção Precoce na Infância no seguimento destas crianças.

Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?

Genetic testing and spending on that testing have grown rapidly since the mapping of the human genome in 2003. However, it is not widely known how many tests there are, how they are used, and how they are paid for. Little evidence from large data sets about their use has emerged. We shed light on the issue of genetic testing by providing an overview of the testing landscape. We examined test availability and spending for the full spectrum of genetic tests, using unique data sources on test availability and commercial payer spending for privately insured populations, focusing particularly on tests measuring multiple genes in the period 2014-17. We found that there were approximately 75,000 genetic tests on the market, with about ten new tests entering the market daily. Prenatal tests accounted for the highest percentage of spending on genetic tests, and spending on hereditary cancer tests accounted for the second-highest. Our results provide insights for those interested in assessing genetic testing markets, test usage, and health policy implications, including current debates over the most appropriate regulatory and payer coverage mechanisms.

Identifying variation in models of care for the genomic-based diagnosis of inherited retinal dystrophies in the United Kingdom.

PurposeAdvances in genomic technologies are prompting a realignment of diagnostic and management pathways for rare inherited disease. New models of care are being developed as genomic-based diagnostic testing becomes increasingly relevant within more and more aspects of medicine. This study describes current care models for the provision of a genomic-based diagnosis for patients with inherited retinal dystrophy (IRD) in UK clinical practice.MethodsA structured telephone survey, conducted (in 2014) with all 23 UK Regional Genetics Centres and a sample of specialist ophthalmology centres (n=4), was used to describe models of service delivery and current levels of genomic-based diagnostic testing. Quantitative data were summarised using descriptive statistics. Responses to open-ended questions were summarised using thematic analysis.ResultsOf the 27 centres 10 of them saw IRD patients in 'generic' clinics and 17 centres offered ophthalmic-specific clinics. Extensive regional variation was observed in numbers of patients seen and in how care for the diagnosis and management of IRD was provided.ConclusionsUnderstanding current practice is a necessary first step in the development and evaluation of complex interventions, such as care models for the genomic-based diagnosis of inherited eye conditions. Presented findings here relating to disparities in care provision are potentially linked to previously reported evidence of perceived unmet needs and expectations of IRD service users. This work provides a foundation for the integration of new care models in mainstream medicine.

Exploring the cancer risk perception and interest in genetic services among Indigenous people in Queensland, Australia.

OBJECTIVE: The purpose of this study is to explore the levels of interest among Indigenous people with cancer in identifying cancer risk in their family and seeking genetic counselling/testing. DESIGN AND SETTING: A cross-sectional survey of Indigenous cancer patients recruited from four major treating hospitals in Queensland. Participants' family history of cancer and interest in genetic counselling/testing was sought using a structured questionnaire. RESULTS: Overall, 73.0% of 252 participants reported having a family history of cancer; of those, 52.8% had at least one first-degree relative with cancer. A total of 68.3% of participants indicated concern about relatives being affected by cancer and 54.4% of participants indicated they would like to assess the cancer risk in their family with a specialist. Concern was associated with willingness to discuss the risk of cancer with a specialist (p<0.001). CONCLUSIONS: Indigenous cancer patients do have a family history of cancer and appear willing to undergo genetic counselling/investigation. It is of great concern that this population could miss the benefits of the technological advances in health care, creating a much larger disparity in health outcomes. IMPLICATIONS: Health service providers should not assume that Indigenous cancer patients will not follow their recommendations when referred to genetic counselling/investigation services.

Analysis of patient reports on the referral process to two NSW cancer genetic services.

To evaluate trends and associations surrounding patient referral to cancer genetics services in NSW. The specific aims of the questionnaire used to collect information were to: (1) quantify the types of cancers being referred, (2) identify the source of referral for the patients, (3) categorise the referral as being either sought by the patient or suggested by the doctor, (4) quantify how often family history was asked, (5) determine who first raised the topic of family history, (6) identify any discouragement faced by patients, (7) clarify the cancer status of patients referred. A comparative patient-reported study was carried out using a questionnaire as the data collection tool in structured short interviews. The questions were aimed at eliciting the patient's understanding of why they were referred to the clinic, whether family history was discussed at the time of referral and who raised the issue via a series of YES/NO and open response questions. Data were collected from March 2012 to August 2012 from two different clinics, St Vincent's Hereditary Cancer Clinic, Sydney and the Hunter Family Cancer Service, Newcastle-both in New South Wales, Australia. Written consent was obtained. The study found that specialists were responsible for the majority of the 150 referrals and were more likely to be proactive in referring, as opposed to GPs (Phi and Cramer's V test). Patients reported that at the time of referral their family history was not asked in 13.5 % of cases, despite being significant. In the 131 cases where family history was discussed, it was the patient on approximately 2 in 5 occasions that brought up the topic. The most common types of cancer seen were breast cancer and colorectal. At both services GP referrals were more common then specialist referrals. On three occasions patients sought referral after being notified that the bloods they had collected by their GP for genetic testing were held by the laboratory due to failure to follow protocol. Six patients reported being discouraged to attend when seeking a referral. At the time of referral 58.7 % of patients were considered to be without cancer. Overall, 20 % of patients requested their referral to the cancer genetics clinics. The discussion of family history in the context of familial cancer is key to accurate risk assessment and management advice. Further education of doctors is required as evidenced by the number of patients where family history was not asked and in those patients who had bloods collected by their GP without counselling.

Chromosomal microarray impacts clinical management.

Chromosomal microarray analysis (CMA) is standard of care, first-tier clinical testing for detection of genomic copy number variation among patients with developmental disabilities. Although diagnostic yield is higher than traditional cytogenetic testing, management impact has not been well studied. We surveyed genetic services providers regarding CMA ordering practices and perceptions about reimbursement. Lack of insurance coverage because of perceived lack of clinical utility was cited among the most frequent reasons why CMA was not ordered when warranted. We compiled a list of genomic regions where haploinsufficiency or triplosensitivity cause genetic conditions with documented management recommendations, estimating that at least 146 conditions potentially diagnosable by CMA testing have published literature supporting specific clinical management implications. Comparison with an existing clinical CMA database to determine the proportion of cases involving these regions showed that CMA diagnoses associated with such recommendations are found in approximately 7% of all cases (n = 28,526). We conclude that CMA impacts clinical management at a rate similar to other genetic tests for which insurance coverage is more readily approved. The information presented here can be used to address barriers that continue to contribute to inequities in patient access and care in regard to CMA testing.

Factors influencing organizational adoption and implementation of clinical genetic services.

PURPOSE: We sought to identify characteristics of genetic services that facilitate or hinder adoption. METHODS: We conducted semi-structured key informant interviews in five clinical specialties (primary care, medical oncology, neurology, cardiology, pathology/laboratory medicine) within 13 Veterans Administration facilities. RESULTS: Genetic services (defined as genetic testing and consultation) were not typically characterized by informants (n = 64) as advantageous for their facilities or their patients; compatible with organizational norms of low cost and high clinical impact; or applicable to patient populations or norms of clinical care. Furthermore, genetic services had not been systematically adopted in most facilities because of their complexity: knowledge of and expertise on genetic testing was limited, and organizational barriers to utilization of genetic services were formidable. The few facilities that had some success with implementation of genetic services had knowledgeable clinicians interested in developing services and organizational-level facilitators such as accessible genetic test-ordering processes. CONCLUSION: Adoption and implementation of genetic services will require a multilevel effort that includes education of providers and administrators, opportunities for observing the benefits of genetic medicine, strategies for reducing the complexity of genomic medicine, expanded strategies for accessing genetics expertise and streamlining utilization, and resources dedicated to assessing the value of genetic information for the outcomes that matter to health-care organizations.

Understanding the expectations of patients with inherited retinal dystrophies.

BACKGROUND: UK genetic ophthalmology services for patients with retinal dystrophy (RD) are variable. Little research exists to define service requirements, or expectations, of patients and their families. This study aimed to explore the views and perceived benefits of genetic ophthalmology services among members of families with RD. METHODS: Twenty participants with known RD mutations were recruited through UK genetic ophthalmic clinics. Semistructured qualitative interviews explored interviewees' perceptions of the role of these services. Interviews were transcribed verbatim and analysed using inductive thematic analysis. RESULTS: Interviewees' expectations and requirements of genetic ophthalmology services were wide-ranging and often perceived to be unmet. Participant expectations were classified in three groups: (1) Medical expectations included obtaining a diagnosis and information about disease/prognosis, genetic risks and research (2) Psychosocial expectations related to participants' need for support in adjusting to RD (3) Practical expectations included the desire for information about welfare and support. CONCLUSIONS: Expectations of RD families for clinical services are complex, encompassing a range of healthcare specialties. Services that align to these expectations will need to reach beyond the diagnostic arena and provide practical and psychosocial support. The identification of measurable outcomes will facilitate future development and evaluation of service delivery models. Many of the expectations identified here map to an existing, previously validated, outcomes framework for clinical genetic services. However, an additional outcome domain, labelled 'Independence' was also identified; this could either be specific to vision loss or relate generally to disability caused by genetic conditions.

Contribuição oftalmológica no exame de pacientes do Serviço de Genética do Hospital das Clínicas da UFMG / Ophthalmology contribution to patients referred from the genetic service of UFMG University Hospital

Objetivos: determinar o perfil dos pacientes encaminhados do Serviço Especial de Genética do Hospital das Clínicas da UFMG para avaliação oftalmológica no Hospital São Geraldo, no período de julho de 2008 a janeiro de 2010; determinar as principais causas desses encaminhamentos, as alterações encontradas nos pacientes e os achados mais comuns em algumas das doenças encontradas. Métodos: estudo descritivo baseado em dados dos pacientes atendidos no Setor de Retina do Hospital São Geraldo, encaminhados do Serviço Especial de Genética do Hospital das Clínicas da UFMG, no período de julho de 2008 a janeiro de 2010. Foram coletadas informações sobre gênero, idade, motivo do encaminhamento, principais características clínicas e suspeita diagnóstica. Para cada paciente foram realizados biomicroscopia do segmento anterior e exame do fundo de olho. Resultados: no período foram avaliados 100 pacientes. As principais suspeitas diagnósticas foram retardo mental e dismorfismos sem diagnóstico estabelecido (21%), síndrome de Marfan (12%), síndrome de Cohen (11%), erro inato do metabolismo (9%), neurofibromatose tipo 1 (5%) e síndrome de Stickler (4%). A avaliação oftalmológica contribuiu para o esclarecimento diagnóstico em 66% dos casos. As principais alterações encontradas foram: palidez de disco óptico 10%; estrabismo, iridodonese e alteração da pigmentação da retina, 7% cada; aumento da escavação do disco óptico 6%, disco óptico hipoplásico 5%, coloboma eptose palpebral, 4% cada. Conclusões: as alterações oftalmológicas são características importantes em diversas doenças genéticas. Quando avaliadas adequadamente podem contribuir para o diagnóstico e para estabelecer o prognóstico das síndromes genéticas...

Objectives: To identify the profile of the patients referred from the Special Genetic Service of UFMG University Hospital to ophthalmologic evaluation at São Geraldo Hospital from July 2008 through January 2010; to determine the major causes of such referrals, the patients? disorders, and the most common findings for some of the diseases. Methods: This is a descriptive study based on data of patients at the Retina Sector of São Geraldo Hospital that were referred from the Special Genetic Service of UFMG University Hospital from July 2008 through 2010. The collection included data on gender, age, reason for referral, main clinical characteristic, and suspected diagnosis. Biomicroscopy of the anterior segment and fundoscopy were carried out for all patients. Results: A total of 100 patients was assessed in the period. The main suspected diagnoses were mental retardation and dimorphisms without established diagnosis (21 %), Marfan syndrome (12 %), Cohen syndrome (11 %), innate errors of the metabolism (9 %), neurofibromatosis type 1 (5 %), and Sitckler syndrome (4 %). The ophthalmologic examination contributed to clarifying diagnosis in 66 % of the cases. The major disorders found were: pale optic disc (10 %); strabismus, irregular retinal pigmentation, and iridodonesis (7 % each); increased optic disc cupping (6 %); hypoplastic optic disc (5 %); and coloboma and ptosis (4 % each). Conclusions: Ophthalmologic disorders are important characteristics inherent to several genetic disorders. When properly assessed, they are of great relevance for diagnosis and prognostic of genetic syndromes...

Integrating genetic studies of nicotine addiction into public health practice: stakeholder views on challenges, barriers and opportunities.

OBJECTIVE: Will emerging genetic research strengthen tobacco control programs? In this empirical study, we interview stakeholders in tobacco control to illuminate debates about the role of genomics in public health. METHODS: The authors performed open-ended interviews with 86 stakeholders from 5 areas of tobacco control: basic scientists, clinicians, tobacco prevention specialists, health payers, and pharmaceutical industry employees. Interviews were qualitatively analyzed using standard techniques. RESULTS: The central tension is between the hope that an expanding genomic knowledge base will improve prevention and smoking cessation therapies and the fear that genetic research might siphon resources away from traditional and proven public health programs. While showing strong support for traditional public health approaches to tobacco control, stakeholders recognize weaknesses, specifically the difficulty of countering the powerful voice of the tobacco industry when mounting public campaigns and the problem of individuals who are resistant to treatment and continue smoking. CONCLUSIONS: In order for genetic research to be effectively translated into efforts to minimize the harm of smoking-related disease, the views of key stakeholders must be voiced and disagreements reconciled. Effective translation requires honest evaluation of both the strengths and limitations of genetic approaches.

A large health system's approach to utilization of the genetic counselor CPT® 96040 code.

PURPOSE: : In 2007, CPT® code 96040 was approved for genetic counseling services provided by nonphysician providers. Because of professional recognition and licensure limitations, experiences in direct billing by genetic counselors for these services are limited. A minority of genetics clinics report using this code because of limitations, including perceived denial of the code and confusion regarding compliant use of this code. We present results of our approach to 96040 billing for genetic counseling services under a supervising physicians National Provider ID number in a strategy for integration of genetics services within nongenetics specialty departments of a large academic medical center. METHODS: : The 96040 billing encounters were tracked for a 14-month period and analyzed for reimbursement by private payers. Association of denial by diagnosis code or specialty of genetics service was statistically analyzed. Descriptive data regarding appointment availability are also summarized. RESULTS: : Of 350 encounters January 2008 to February 2009, 289 (82%) were billed to private payers. Of these, 62.6% received some level of reimbursement. No association was seen for denial when analyzed by the diagnosis code or by genetics focus. Through this model, genetics appointment availability minimally doubled. CONCLUSION: : Using 96040 allowed for expanding access to genetics services, increased appointment availability, and was successful in obtaining reimbursement for more than half of encounters billed.

Generation after generation: exploring the psychological impact of providing genetic services through a cascading approach.

PURPOSE: The provision of genetic services often occurs in a cascading fashion within families experiencing inherited diseases. This study examines whether previous family experiences with genetic services influences levels of psychological well-being of family members receiving services later. METHODS: Two hundred ninety-seven persons from 38 families with Lynch syndrome completed questionnaires before receiving genetic services. Baseline levels of test-related distress, depressive symptoms, and cancer worries were assessed in relationship to the (1) amount of time elapsed since services were provided to the index case and (2) generation of the family member relative to the index case. RESULTS: Family members in the same generation as the index case experienced significant increases in test-related distress (P = 0.003) and cancer worry (P = 0.001) with increasing time between receipt of genetic test results by the index case and provision of services to family members. Change in the number of depressive symptoms was not significant (P = 0.17). CONCLUSION: The provision of genetic services through a cascading approach significantly increases distress and worry among family members within the same generation as the index case who receive services at increasingly distant time intervals. Additional research is needed to explore social influences after the introduction of genetic services.

Education may improve the underutilization of genetic services by Middle Eastern primary care practitioners.

AIM: This study assesses Arab Middle Eastern primary care practitioners' (PCPs) use of and referral to clinical genetic testing and counseling, as well as the effect of education on their willingness to utilize or refer to these services. METHODS: A total of 128 PCPs were surveyed. Data about their demographics, academic background, perceptions about their role in genetic testing and counseling, as well as their use of genetic testing and counseling services were collected. Another survey was distributed to participants who attended a genetics symposium and inquired about their willingness to include these services in their practice. RESULTS: Most of the PCPs rarely or never request genetic testing (64.8%), and 42 (33.6%) have never requested a genetic test. Similarly, 30% have never performed genetic counseling and 34.7% rarely perform genetic counseling. Lack of knowledge and expertise were considered major barriers. After attending the genetics symposium, many PCPs expressed their willingness to start doing genetic testing or referring to genetic testing, and many more answered that they will start counseling or referring to counseling. CONCLUSION: This study shows that genetic testing and counseling services are underutilized by Arab PCPs in the Middle East. Education may improve their use of and referral to these services.

What keeps you up at night? Genetics professionals' distressing experiences in patient care.

PURPOSE: To explore specific patient care experiences that genetics professionals associate with distress and the emotions engendered by those experiences. METHODS: We conducted semistructured telephone interviews with clinical geneticists, genetic counselors, and genetic nurses that focused on a single distressing experience. RESULTS: Fourteen clinical geneticists, 25 genetic counselors, and 14 nurses were interviewed. We categorized the situations that interviewees associated with distressing patient care experiences into seven major types: patient/family decisions (27% of total situations), giving bad news (17%), colleague behavior (15%), end-of-life issues (12%), unintended outcomes (12%), difficult patients (8%), and injustice/inhumanity (8%). Interviewees reported experiencing a variety of negative emotions during these situations, including anger, guilt, helplessness, and inadequacy. CONCLUSIONS: The distress and resulting emotions experienced by genetic service providers must be acknowledged. Interventions are needed to assist the clinician in becoming self-aware by reflecting on experienced emotions, examining belief systems and values, and understanding the connection between their emotions and behavior. Involvement in mindfulness meditation, reflective writing, peer support groups or additional communication skill-based training could address this need. In addition, clinicians should seek ways to increase personal meaning derived from providing patient care.

Referral patterns of Indiana oncologists for colorectal cancer genetic services.

We assessed the utilization and referral patterns of Indiana oncologists for colorectal cancer (CRC) genetic services. Surveys were sent to 151 oncologists practicing within the state, with a response rate of 40%. Half of respondents had previously referred patients for CRC genetic services. Those who had not cited reasons, including absence of an appropriate patient, lack of information about genetic services, and uncertainty regarding which patients to refer. Most were interested in materials that would assist in identifying patients for referral. As a result, a booklet was developed and given to participants. This study demonstrates the need for physician education about CRC genetic services.