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.

Canadian College of Medical Geneticists (CCMG) points to consider: resuming genetic services in a pandemic-a summary.

The COVID-19 pandemic has disrupted the provision of genetic care in Canada. With the public health effort to flatten the curve, many clinics have moved to virtual care for select populations of patients while triaging and postponing others. As genetic services are asked to gradually resume, a roadmap is needed to ensure clinical care decisions for at-risk patients are transparent and equitable, that postponed care is resumed and that patients with or waiting for a genetic diagnosis are not disproportionately affected or abandoned.The purpose of this document is to highlight the guiding ethical principles and stakeholder considerations in resuming genetic services to help guide the competing needs going forward of both limiting exposures while maintaining high-quality care. Considerations highlighted are (1) environment of practice, (2) nature of consult, (3) patient factors, (4) provider factors, and (5) laboratory factors. The intended users are those providing genetic care in a Canadian context with the recognition that there are clinic-specific and regional variations that will influence decision-making. While specific to the Canadian context, the ethical principles used to guide these decisions would be relevant for consideration in other jurisdictions.

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.

Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.

Despite clinical guidelines, programs conducting population-based screening and genetic service delivery for hereditary cancer prevention and control are rare in practice. We interviewed individuals (n = 13) instrumental in implementing seven unique clinical programs conducting either universal tumor screening for Lynch Syndrome or routine family history screening and provision of genetic services for hereditary breast and ovarian cancer in the United States. To characterize determinants of readiness to implement population-based cancer genetic service delivery models, interviews and deductive codes drew on Weiner's theory of organizational readiness for change. Qualitative analysis identified themes across programs. The degree to which organizational stakeholders valued moving to a population-based genetic service delivery model depended on the existence of aligned clinical guidelines at the time of program implementation. However, judgments of implementation capacity within the organization, particularly with respect to task demands and resource concerns, were more often barriers to readiness. Program champions were essential to facilitating readiness, frequently taking on substantial uncompensated work. These data suggest that developing interventions targeting change efficacy and cultivating practice change champions may be two promising ways to increase uptake of population-based hereditary cancer screening and genetic service delivery in clinical practice.

Defining and Achieving Health Equity in Genomic Medicine.

The potential of genomics to improve health comes with the peril that the benefits will not be equitably available to all populations. Existing health disparities can be exacerbated if the implementation of genomic medicine does not intentionally focus on health equity. Defining what health equity means in the context of genomics and outlining how it can be achieved is important for the future of the field. Strategies to improve health equity include addressing underrepresentation of diverse populations in genomic research, investigating how genomic services can be deployed in diverse health care settings and underserved communities, increasing workforce diversity, supporting infrastructure development outside traditional research centers, and engaging communities and health care providers. By employing these strategies, the genomic research community can advance health equity in genomic medicine.

Challenges and opportunities for effective delivery of clinical genetic services in the U.S. healthcare system.

PURPOSE OF REVIEW: Demand for clinical genetics and genomics services is increasing. As discussed in this study, the clinical genetics and genomics workforce is small. How to meet the demand with a limited workforce requires innovation. RECENT FINDINGS: Background data regarding the current state of clinical genetic services including volume of services and make-up of the clinical genetics workforce are presented. The study then identifies opportunities to increase access to clinical genetic service providers using new models of service and discusses examples of solutions which have been implemented in some practice settings. Creative uses of technology to increase providers' efficiency are highlighted. SUMMARY: Clinical genetics service providers need to rise to the occasion and lead the transformation of clinical genetic service delivery. Many of the examples of solutions described in the study can be implemented by other providers now. Additionally, the described solutions may serve to inspire genetic providers to create their own new solutions, which should then be shared with the provider community.

Medical genetic services in a developing country: lesson from Thailand.

PURPOSE OF REVIEW: The aim of the review was to give an example of how advances in medical genetics impact a developing country and how Thailand struggles to improve medical genetic services. RECENT FINDINGS: Thailand is an example of a developing country with limited resources and low geneticist-to-population ratio. The country formally followed decentralized healthcare system (even though practically centralized) and is a nation with growing public interest in medical genetic technology. Nonetheless, efforts have been and are still being made in expanding clinical genetics services, improving access to laboratory diagnosis, increasing rare disease medication in national formulary, and the training of medical genetics personnel. For an endemic genetic disorder such as thalassemia, a universal prevention and control program is available and has had some success. SUMMARY: Lesson learned in country like Thailand may be a useful model for other developing nations. Several strategies can be attempted to integrate the advances in medical genetics into medical practices in developing countries with relatively low income per capita and geographic discrepancy in healthcare distribution.

Evolution of Hereditary Breast Cancer Genetic Services: Are Changes Reflected in the Knowledge and Clinical Practices of Florida Providers?

AIMS: We describe practitioner knowledge and practices related to hereditary breast and ovarian cancer (HBOC) in an evolving landscape of genetic testing. METHODS: A survey was mailed in late 2013 to Florida providers who order HBOC testing. Descriptive statistics were conducted to characterize participants' responses. RESULTS: Of 101 respondents, 66% indicated either no genetics education or education through a commercial laboratory. Although 79% of respondents were aware of the Supreme Court ruling resulting in the loss of Myriad Genetics' BRCA gene patent, only 19% had ordered testing from a different laboratory. With regard to pretest counseling, 78% of respondents indicated they usually discuss 11 of 14 nationally recommended elements for informed consent. Pretest discussion times varied from 3 to 120 min, with approximately half spending <20 min. Elements not routinely covered by >40% of respondents included (1) possibility of a variant of uncertain significance (VUS) and (2) issues related to life/disability insurance. With regard to genetic testing for HBOC, 88% would test an unaffected sister of a breast cancer patient identified with a BRCA VUS. CONCLUSIONS: Results highlight the need to identify whether variability in hereditary cancer service delivery impacts patient outcomes. Findings also reveal opportunities to facilitate ongoing outreach and education.

Developing clinical cancer genetics services in resource-limited countries: the case of retinoblastoma in Kenya.

BACKGROUND/AIMS: Clinical cancer genetics is an integral part of cancer control and management, yet its development as an essential medical service has been hindered in many low-and-middle-income countries. We report our experiences in developing a clinical cancer genetics service for retinoblastoma in Kenya. METHODS: A genetics task force was created from within the membership of the existing Kenyan National Retinoblastoma Strategy group. The task force engaged in multiple in-person and telephone discussions, delineating experiences, opinions and suggestions for an evidence-based, culturally sensitive retinoblastoma genetics service. Discussions were recorded and thematically categorized to develop a strategy for the design and implementation of a national retinoblastoma clinical genetics service. RESULTS: Discussion among the retinoblastoma genetics task force supported the development of a comprehensive genetics service that rests on 3 pillars: (1) patient and family counseling, (2) community involvement, and (3) medical education. CONCLUSIONS: A coordinated national retinoblastoma genetics task force led to the creation of a unique and relevant approach to delivering comprehensive and accurate genetic care to Kenyan retinoblastoma patients. The task force aims to stimulate innovative approaches in cancer genetics research, education and knowledge translation, taking advantage of unique opportunities offered in the African context.

Patients with genetic cancer undergoing surveillance at a specialized clinic rate the quality of their care better than patients at non-specialized clinics.

OBJECTIVES: To compare ratings of quality of care between patients with genetic cancer who receive specialized care with patients who receive non-specialized care while controlling for socio-demographic and clinical variables; MATERIAL AND METHODS: All patients in a national cohort of adult patients diagnosed with familial adenomatous polyposis (FAP) who had undergone prophylactic colorectal surgery were assessed (n = 276, response rate 76%). Quality of care was measured with the Quality of Care from the Patient Perspective (QPP). Univariate and multivariate logistic regression analyses were performed; RESULTS: Patients receiving specialized care were significantly more likely to report the quality of care as better in all three QPP dimensions investigated than those receiving non-specialized care; CONCLUSIONS: In order to promote and maintain good quality of care for surgically treated patients with FAP, and to minimize the risk of cancer, specialized care, including continuity and easy access of health care professionals, should be provided.

Genetic service delivery: infrastructure, assessment and information.

Identification of genomic determinants of complex disorders such as cancer, diabetes and cardiovascular disease has prompted public health systems to focus on genetic service delivery for prevention of these disorders, adding to their previous efforts in birth defects prevention and newborn screening. This focus is consistent with previously identified obligations of the public health system as well as the core functions of public health identified by the Institute of Medicine. Models of service delivery include provision of services by the primary care provider in conjunction with subspecialists, provision of services through the medical home with co-management by genetics providers, provision of services in conjunction with disorder-specific treatment centers, and provision of services through a network of genetics clinics linked to medical homes. Whatever the model for provision of genetic services, tools to assist providers include facilities for outreach and telemedicine, information technology, just-in-time management plans, and emergency management tools. Assessment tools to determine which care is best are critical for quality improvement and development of best practices. Because the workforce of genetics providers is not keeping pace with the need for services, an understanding of the factors contributing to this lag is important, as is the development of an improved knowledge base in genomics for primary care providers.

Cancer genetic risk assessment for individuals at risk of familial breast cancer.

BACKGROUND: The recognition of an inherited component to breast cancer has led to an increase in demand for information, reassurance, and genetic testing, which has resulted in the creation of genetic clinics for familial cancer. The first step for patients referred to a cancer genetic clinic is a risk assessment. OBJECTIVES: To evaluate the impact of cancer genetic risk-assessment services on patients at risk of familial breast cancer. SEARCH METHODS: The specialised register maintained by the Cochrane Breast Cancer Group was searched on 16th February 2005. We also searched MEDLINE, EMBASE, CINAHL, PsycLIT, CENTRAL, DARE, ASSIA, Web of Science, SIGLE and LILACS. The original searches covered the period 1985 to February 2005. We also handsearched relevant journals. For this review update the search was repeated through to April 2011. SELECTION CRITERIA: We considered trials looking at interventions for cancer genetic risk-assessment services for familial breast cancer for inclusion. Trials assessed outcomes such as understanding of risk, satisfaction and psychological well-being. We excluded studies if they concerned cancers other than breast cancer or if participants were not at risk of inherited breast cancer. We also excluded trials concerning the provision of general cancer genetic information or education as this review was concerned with the delivery of genetic risk assessment. Participants could be individuals of any age or gender, with or without a known BRCA mutation, but without a previous history of breast cancer or any other serious illness. DATA COLLECTION AND ANALYSIS: Two review authors independently assessed trial quality and extracted data. Additional information was sought from investigators as necessary. Due to the heterogeneity of both the interventions and outcomes, we reported data descriptively. MAIN RESULTS: In this review update, we included five new trials, bringing the total number of included studies to eight. The included trials (pertaining to 10 papers), provided data on 1973 participants and assessed the impact of cancer genetic risk assessment on outcomes including perceived risk of inherited cancer, and psychological distress. This review suggests that cancer genetic risk-assessment services help to reduce distress, improve the accuracy of the perceived risk of breast cancer, and increase knowledge about breast cancer and genetics. The health professional delivering the risk assessment does not appear to have a significant impact on these outcomes. AUTHORS' CONCLUSIONS: This review found favourable outcomes for patients after risk assessment for familial breast cancer. However, there were too few papers to make any significant conclusions about how best to deliver cancer genetic risk-assessment services. Further research is needed assessing the best means of delivering cancer risk assessment, by different health professionals, in different ways and in alternative locations.

The role of institutional entrepreneurs in reforming healthcare.

We draw on institutional entrepreneurship theory to analyse the dynamics of institutional change in a healthcare context. The focus of our interest is in the relationship between an institutional entrepreneur's 'subject position', defined in terms of their structural and normative legitimacy within the existing institutional landscape, and the nature of the change enacted. We develop this approach through an examination of the implementation of new pathways for cancer genetic services within the English National Health Service. Employing comparative case analysis we show that those who have limited structural legitimacy under prevailing conditions are most willing to engender change, but also least able; whereas those who have strong structural legitimacy are most able, but often least willing. However, those who are able rhetorically to combine a balance of structural and normative legitimacy are most able to produce change. In doing so, we demonstrate the importance of the concept of institutional entrepreneurship to understand healthcare reform.

[Organization of genetic service in multiprofile hospitals].

The necessity to organize genetic service for patients and their relatives in multiprofile hospitals is discussed. Analysis of long-term experience of the Medical Genetic Department at the First Moscow Medical University yielded main characteristics to be used for the organization of medical genetic service at such hospitals based at independent divisions. Such services ensure more efficacious care than those at the regional level.

Outcomes of genetics services: creating an inclusive definition and outcomes menu for public health and clinical genetics services.

Third party payers, funding agencies, and lawmakers often require clinicians and public health agencies to justify programs and services by documenting results. This article describes two assessment tools--"Defining Genetics Services Framework" and "Genetics Services Outcomes Menu," created to assist public health professionals, clinicians, family advocates, and researchers to plan, evaluate, and demonstrate the effectiveness of genetics services. The tools were developed by a work group of the Western States Genetics Services Collaborative (WSGSC) consisting of public health genetics and newborn screening professionals, family representatives, a medical geneticist, and genetic counselors from Alaska, California, Hawaii, Idaho, Oregon, and Washington. The work group created both tools by an iterative process of combining their ideas with findings from a literature and World Wide Web review. The Defining Genetics Services Framework reflects the diversity of work group members. Three over-lapping areas of genetics services from public health core functions to population screening to clinical genetics services are depicted. The Genetics Services Outcomes Menu lists sample long-term outcomes of genetics services. Menu outcomes are classified under impact areas of Knowledge and Information; Financing; Screening and Identification; Diagnosis, Treatment, and Management; and Population Health. The WSGSC incorporated aspects of both tools into their Regional Genetics Plan.

Quality assurance in medical and public health genetics services: a systematic review.

As genetic services grow in scope, issues of quality assessment in genetic services are emerging. These efforts are well developed for molecular and cytogenetic testing and laboratories, and newborn screening programs, but assessing quality in clinical services has lagged, perhaps owing to the small work force and the recent evolution from a few large training programs to multiple training sites. We surveyed the English language, peer-reviewed literature to summarize the knowledge-base of quality assessment of genetics services, organized into the tripartite categories of the Donabedian model of "structure," "process," and "outcome." MEDLINE searches from 1990 to July 2008, yielded 2,143 articles that addressed both "medical/genetic screening and counseling" and "quality indicators, control, and assurance." Of the 2,143 titles, 131 articles were extracted for in-depth analysis, and 55 were included in this review. Twenty-nine articles focused on structure, 19 on process, and seven on outcomes. Our review underscored the urgent need for a coherent model that will provide health care organizations with tools to assess, report, monitor, and improve quality. The structure, process, and outcomes domains that make up the quality framework provide a comprehensive lens through which to examine quality in medical genetics.

Improving service delivery by evaluation of the referral pattern and capacity in a clinical genetics setting.

Quality improvement in specialist services such as clinical genetics is challenging largely due to the complexity of the service and the difficulty in obtaining accurate, reproducible, and measurable data. The objectives were to evaluate the pattern of referrals to the All Wales Medical Genetics Service (AWMGS) North Wales Genetics team based in three separate hospitals, define the capacity of the team and implement change to improve equity, timeliness and efficiency of care delivery to patients. The methodology required collating the monthly referral rates retrospectively for each center over a 2.5-year period and plotting on statistical process control charts. Process mapping of the referral process in each center was undertaken, differences documented and a common pathway implemented. "Did not attend" and "time to first appointment" rates were also measured in one center. PDSA methodology was used to implement "patient focused booking." The results show that the range for referral rates in any given month for each center was 3-33 referrals. The range for referral rate for the whole team was 18-64 per month. Since January 2004 the average number of monthly referrals to the North Wales service has increased by 50%. The potential range in monthly referrals varies between centers and the range of the variability has also increased also in two out of the three centers. Introduction of Patient Focused Booking reduced the "Failed to Attend" rate and 100% of patients were offered a choice of appointments. In addition 100% had a first face-to-face contact within 6 weeks if they chose. The measurement of improvement involved firstly introducing a series of continuous measures to provide a baseline for the process prior to the implementation of any changes and secondly to indicate the impact of the changes following implementation. The measures implemented included process (referrals numbers, percentage of patients offered a choice of appointments), outcome (percentage of patients seen within 6 weeks and the percentage failing to attend), and balancing measures (percentage declining the service or failing to respond). It was concluded that general tools of quality improvement can be used to good effect within specialist services. Good processes and accurate, reproducible and measurable data are essential. Small changes can have a major impact both on the quality of the service offered and the ability to deliver the service.

Clinical genetics provider real-time workflow study.

PURPOSE: Our work is the first documentation, in real time, of workflow in a general genetics department including data on patient care, research, and other activities for both clinical geneticists and genetic counselors. METHODS: All physician geneticists and genetic counselors in the medical genetics department used an electronic tool to record their activities in 15 minute increments during clinic hours, evenings, and weekends over a 10-week period. RESULTS: The average work week was 54.1 hours for physicians and 43.5 hours for genetic counselors. During clinic hours physicians spent about one-fourth of their time on direct patient care, one-fourth on other patient-related activities, one-fourth on research unrelated to individual patient care, and the remaining fourth on all other activities. However, after hours and on weekends they spent most of their time on research. Genetic counselors spent half of their time on patient-related activities, one-fourth on direct patient care, and the remainder on all other activities. The total professional time averaged 7 hours per new patient and 3.5 hours per follow-up with nearly 60% of this time devoted to patient-related activities. CONCLUSIONS: The labor intensive nature of clinical genetics, the large amount of time devoted to patient-related activities, and continuing limitations on billing by genetic counselors all contribute to the financial challenges faced by genetics departments.

Delivery of genomic medicine for common chronic adult diseases: a systematic review.

CONTEXT: The greatest public health benefit of advances in understanding the human genome may be realized for common chronic diseases such as cardiovascular disease, diabetes mellitus, and cancer. Attempts to integrate such knowledge into clinical practice are still in the early stages, and as a result, many questions surround the current state of this translation. OBJECTIVE: To synthesize current information on genetic health services for common adult-onset conditions by examining studies that have addressed the outcomes, consumer information needs, delivery, and challenges in integrating these services. DATA SOURCES: MEDLINE articles published between January 2000 and February 2008. STUDY SELECTION: Original research articles and systematic reviews dealing with common chronic adult-onset conditions were reviewed. A total of 3371 citations were reviewed, 170 articles retrieved, and 68 articles included in the analysis. DATA EXTRACTION: Data were independently extracted by one reviewer and checked by another with disagreement resolved by consensus. Variables assessed included study design and 4 key areas: outcomes of genomic medicine, consumer information needs, delivery of genomic medicine, and challenges and barriers to integration of genomic medicine. DATA SYNTHESIS: Sixty-eight articles contributed data to the synthesis: 5 systematic reviews, 8 experimental studies, 35 surveys, 7 pre/post studies, 3 observational studies, and 10 qualitative reports. Three systematic reviews, 4 experimental studies, and 9 additional studies reported on outcomes of genetic services. Generally there were modest positive effects on psychological outcomes such as worry and anxiety, behavioral outcomes have shown mixed results, and clinical outcomes were less well studied. One systematic review, 1 randomized controlled trial, and 14 other studies assessed consumer information needs and found in general that genetics knowledge was reported to be low but that attitudes were generally positive. Three randomized controlled trials and 13 other studies assessed how genomic medicine is delivered and newer models of delivery. One systematic review and 19 other studies assessed barriers; the most consistent finding was the self-assessed inadequacy of the primary care workforce to deliver genetic services. Additional identified barriers included lack of oversight of genetic testing and concerns about privacy and discrimination. CONCLUSION: Many gaps in knowledge about organization, clinician, and patient needs must be filled to translate basic and clinical science advances in genomics of common chronic diseases into practice.