Using Patient-Reported Outcome Measures for Quality Improvement in Clinical Genetics: an Exploratory Study

International advocacy of patient-centred healthcare delivery has led to emphasis on the (re)design and evaluation of healthcare processes and outcomes from a patient perspective. Patient-reported outcome measures (PROMs) have significant potential to inform such attempts. However there is limited understanding of the processes by which this can be achieved. This exploratory study followed attempts to utilise two different PROMs measures to support service quality improvement in clinical genetics. PROMs used were the Genetic Counseling Outcome Scale (GCOS-24), a well-validated clinical genetics-specific PROM and Euroqol (EQ-5D), a generic PROM favoured by the UK National Institute for Health and Excellence (NICE). Both of these PROMs enable pre/post intervention comparison. A service audit tool was also used, premised on a patient-reported experience measure. In addition, the study draws on interviews with clinical staff to identify challenges associated with the use of PROMs (response rate, data collection, analysis). Benefits are also explored and include the provision of insight into patients’ needs; complementing clinical judgement; identification of needs being met, evidencing the benefit of services provided; prompting consideration of areas requiring attention; and encouraging professional development.     

Genetic Counselling for Psychiatric Disorders: Accounts of Psychiatric Health Professionals in the United Kingdom

Genetic counselling is not routinely offered for psychiatric disorders in the United Kingdom through NHS regional clinical genetics departments. However, recent genomic advances, confirming a genetic contribution to mental illness, are anticipated to increase demand for psychiatric genetic counselling. This is the first study of its kind to employ qualitative methods of research to explore accounts of psychiatric health professionals regarding the prospects for genetic counselling services within clinical psychiatry in the UK. Data were collected from 32 questionnaire participants, and 9 subsequent interviewees. Data analysis revealed that although participants had not encountered patients explicitly demanding psychiatric genetic counselling, psychiatric health professionals believe that such a service would be useful and desirable. Genomic advances may have significant implications for genetic counselling in clinical psychiatry even if these discoveries do not lead to genetic testing. Psychiatric health professionals describe clinical genetics as a skilled profession capable of combining complex risk communication with much needed psychosocial support. However, participants noted barriers to the implementation of psychiatric genetic counselling services including, but not limited to, the complexities of uncertainty in psychiatric diagnoses, patient engagement and ethical concerns regarding limited capacity.     

Preconceptional family health evaluation: A regional education program for family planning clients and health professionals

The Preconceptional Family Health Evaluation Program was a regional project developed and funded for 2 years by the New England Regional Genetics Group (NERGG) to educate family planning health professionals about genetics, and to offer family planning clients preconceptional identification of genetic and environmental exposure risks. To meet these goals, genetic education was provided on a regional basis to 45 family planning professionals. A self-administered family health risk questionnaire adaptable to individual family planning settings was developed. Five hundred and twenty-nine family planning clients voluntarily completed the questionnaire. Cigarette smoking (35%) and alcohol use (57%) were two major categories of risks identified. The Preconceptional Family Health Evaluation Program was well received by all participants and provided an effective means for regional education of family planning health professionals. As a result of the program, state program planners, clinical genetics services, and family planning health professionals developed a strong relationship that will serve future educational and genetic risk screening efforts.     

Implementing a Virtual Health Telemedicine Program in a Community Setting

Aurora Health Care in eastern Wisconsin has a clinical genetics program driven by genetic counselors in the cancer/adult and prenatal genetics settings. In 2015, the workforce shortage of genetic counselors left us with 4 open positions for genetic counselors that we were unable to fill. We explored many models of alternative service delivery, and determined virtual health (VH) via telemedicine to be the best option for our system. Historically, telemedicine technologies have been used to provide access to healthcare services to patients in remote areas. We, however, were struggling to find genetics counselors to staff both our remote clinics and urban clinics. To solve this problem, we recruited genetic counselors from across the country to work remotely from their current home or home office utilizing VH to staff our clinics. We then created clinical workflows and an implementation process of virtual health for 9 prenatal and cancer clinics across the eastern Wisconsin footprint of our healthcare system over the course of 12 months. Here we provide our experience and process in establishing a VH program in order to help other institutions that have been affected by the workforce shortage of clinical genetics professionals.     

Expansion of Genetic Services Utilizing a General Genetic Counseling Clinic

We established a general genetic counseling clinic (GCC) to help reduce long wait times for new patient appointments and to enhance services for a subset of patients. Genetic counselors, who are licensed in Tennessee, were the primary providers and MD geneticists served as medical advisors. This article describes the clinic referral sources, reasons for referral and patient dispositions following their GCC visit(s). We obtained patients by triaging referrals made to our medical genetics division. Over 24 months, our GCC provided timely visits for 321 patients, allowing the MD geneticists to focus on patients needing a clinical exam and/or complex medical management. Following their GCC visit(s), over 80 % of patients did not need additional appointments with an MD geneticist. The GCC allowed the genetic counselor to spend more time with patients than is possible in our traditional medical genetics clinic. Patient satisfaction surveys (n?=?30) were very positive overall concerning the care provided. Added benefits for the genetic counselors were increased professional responsibility, autonomy and visibility as health care providers. We conclude that genetic counselors are accepted as health care providers by patients and referring providers for a subset of clinical genetics cases. A GCC can expand genetic services, complement more traditional genetic clinic models and utilize the strengths of the genetic counselor health care provider.     

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors

The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

Patient activity and outcome in group psychotherapy: new findings

The relation of patient verbal activity to pretherapy symptom status and outcome was examined for ninety patients in time-limited group psychotherapy. For each half-hour segment the most verbally active member, or main actor (MA), was identified. Verbal activity was measured by counting the number of times each patient was MA during the course of the group. Outcome was assessed by administering a battery of instruments pre- and posttherapy and by obtaining direct ratings of patient benefit from the patient, therapist, and an independent rater: the number of times MA was found to be significantly correlated with four pretherapy measures, indicating that the most disturbed patients were most active in these groups; the number of times MA was also correlated with patient and therapist benefit ratings, indicating that therapists and patients themselves agreed that those who spoke the most benefited the most. However, partial correlations between number of times MA and other outcome measures did not produce any significant relationships. Thus, it does not appear that patient verbal activity is related to outcome, as measured by objective instruments.     

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

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

Group Psychotherapy in the Treatment of Some Neurodermatoses

The relation of patient verbal activity to pretherapy symptom status and outcome was examined for ninety patients in time-limited group psychotherapy. For each half-hour segment the most verbally active member, or main actor (MA), was identified. Verbal activity was measured by counting the number of times each patient was MA during the course of the group. Outcome was assessed by administering a battery of instruments pre- and posttherapy and by obtaining direct ratings of patient benefit from the patient, therapist, and an independent rater: the number of times MA was found to be significantly correlated with four pretherapy measures, indicating that the most disturbed patients were most active in these group; the number of times MA was also correlated with patient and therapist benefit ratings, indicating that therapists and patients themselves agreed that those who spoke the most benefited the most. However, partial correlations between number of times MA and other outcome measures did not produce any significant relationships. Thus, it does not appear that patient verbal activity is related to outcome, as measured by objective instruments.     

Clinical Use of the Surgeon General’s “My Family Health Portrait” (MFHP) Tool: Opinions of Future Health Care Providers

This study examined medical students’ and house officers’ opinions about the Surgeon General’s “My Family Health Portrait” (MFHP) tool. Participants used the tool and were surveyed about tool mechanics, potential clinical uses, and barriers. None of the 97 participants had previously used this tool. The average time to enter a family history was 15 min (range 3 to 45 min). Participants agreed or strongly agreed that the MFHP tool is understandable (98%), easy to use (93%), and suitable for general public use (84%). Sixty-seven percent would encourage their patients to use the tool; 39% would ensure staff assistance. Participants would use the tool to identify patients at increased risk for disease (86%), record family history in the medical chart (84%), recommend preventive health behaviors (80%), and refer to genetics services (72%). Concerns about use of the tool included patient access, information accuracy, technical challenges, and the need for physician education on interpreting family history information.     

Nigerian Clergy and healthcare professionals’ perceptions of health-seeking behaviours among Nigerian immigrants in the UK

The diversity in patient populations due to immigration in the UK has implications for adequate understanding of a patients’ culture by the clinician as well as patient–clinician cultural matching for enhanced service use and outcome. This qualitative study investigated how Nigerian clergy and health professionals perceived health-seeking behaviours among Nigerians in the UK, while considering the impact of their own beliefs and values as care providers. Six participants were interviewed (clergy, n?=?2; health professionals, n?=?4). Data were analysed using Interpretative Phenomenological Analysis. Results showed that the clergy and health professionals themselves use religious/cultural cure and formal healthcare methods, and believed Nigerian immigrants as predominantly using religious/cultural methods which can affect healthcare utilisation, although differences between the professionals were reported. The potentials for integrating other cure methods into the formal healthcare services were considered, while highlighting the challenges that may arise from such collaborative effort.     

Communication about DTC Testing: Commentary on a ‘Family Experience of Personal Genomics’

This paper provides a commentary on ‘Family Experience of Personal Genomics’ (Corpas 2012). An overview is offered on the communication literature available to help support individuals and families to communicate about genetic information. Despite there being a wealth of evidence, built on years of genetic counseling practice, this does not appear to have been translated clearly to the Direct to Consumer (DTC) testing market. In many countries it is possible to order a DTC genetic test without the involvement of any health professional; there has been heated debate about whether this is appropriate or not. Much of the focus surrounding this has been on whether it is necessary to have a health professional available to offer their clinical knowledge and help with interpreting the DTC genetic test data. What has been missed from this debate is the importance of enabling customers of DTC testing services access to the abundance of information about how to communicate their genetic risks to others, including immediate family. Family communication about health and indeed genetics can be fraught with difficulty. Genetic health professionals, specifically genetic counselors, have particular expertise in family communication about genetics. Such information could be incredibly useful to kinships as they grapple with knowing how to communicate their genomic information with relatives.     

“SLANG”—Sensitive Language and the New Genetics—an Exploratory Study

SLANG—Sensitive Language and the New Genetics—is a concept that arose out of informal discussions between a number of interested parties, both consumers and professionals, who were becoming increasingly uneasy with some of the language commonly used in medical genetics. Some language choices were felt by the authors to be inappropriate for a variety of reasons. Poor language choice may impede an individual's understanding of a genetic condition or important medical information and the chosen words themselves may simply be perceived as discriminatory and even offensive. SLANG is an important concept to explore partly because literature in this area confirms that language choices in medical settings can be of great significance to both patients and families. Studies have shown how language choices impact on professional practice by, as one example, changing the intended meaning of medical information and affecting individual perception of risk and choice which, in turn, may affect individual or familial well-being. In addition language choice has the power to affect how individuals perceive themselves and are viewed by others. This paper presents the results from our pilot study and discusses the implications for health professionals with particular reference to medical genetics settings.     

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial

To increase accessibility to genetics services for low-urgency patients seeking Ashkenazi Jewish (AJ) carrier screening, we designed an interactive computer (IC) module that provides pre-test genetics education and allows genetics professionals to order the test without meeting the patients beforehand. We compared this module with in-person genetic counseling (GC) using a randomized trial. AJ individuals were randomized to undergo genetics education via the IC module (n = 26) or GC (n = 28). We compared post-interventional genetics knowledge, perceived genetic risk, and anxiety between the two groups, after accounting for pre-interventional scores, using ANCOVA. Wilcoxon Rank-Sum test was used to compare post-interventional satisfaction. Post-interventional genetics knowledge, risk perception, or anxiety were not significantly different between the two groups after accounting for baseline scores (p = 0.50–0.54), although the data are inconclusive regarding the module’s non-inferiority at a 5% margin. Post-intervention satisfaction scores were generally higher in the GC group than the IC module group. Our IC module has the potential to improve access to clinical genetics services for patients and staff, but it is not suitable for all AJ patients and cannot completely replace the benefits of in-person consultations.     

Integrating Mental Health and Primary Care Services in the Department of Veterans Affairs Health Care System

Integrating mental health care in the primary care setting has been identified in the literature as a model for increasing access to mental health services and has been associated with enhanced clinical and functional patient outcomes and higher patient satisfaction. The Department of Veterans Affairs (VA), which operates the nation’s largest integrated health care system, has taken a leadership role in creating a health care system in which mental health care is provided in the primary care setting. This article examines VA’s efforts and progress to date in implementing evidence-based models of integrated mental health services nationally in community based outpatient clinics, home based primary care, and outpatient primary clinics at medical facilities. Psychology plays an important role in this progress, as part of an overall interdisciplinary effort, in which all professions are crucially important and work together to promote the overall well-being of patients. This article is based in part on a presentation by the first author at the 3rd National Conference of the Association of Psychologists in Academic Health Centers (APAHC) in May of 2007 in Minneapolis, Minnesota.     

Predictors of Satisfaction with Obstetric Care in High-risk Pregnancy: The Importance of Patient–Provider Relationship

The study set out to examine the predictive effects of patients’ emotional distress and their relationships with their health care providers on satisfaction with obstetric services in high-risk pregnancies. Participants were 104 pregnant women with a history of recurrent losses, fetal demise, previous or current fetal genetic abnormality, advanced maternal age, or obstetric or medical complications of the present pregnancy. Self-report measures of emotional distress and the quality of their relationships with their medical provider were administered. Hierarchical multiple regression analyses were conducted to assess the predictive effect of these variables on satisfaction with services. Provision of information, constructive communication, and good relationships predicted elevated satisfaction with health services. Provision of information also buffered against the adverse effect of emotional distress on satisfaction with health services. These findings elucidate the central role of provider–patient interaction, particularly as it is related to provision of information, in high-risk pregnancy.     

In focus. Has patient autonomy gone to far? Geneticists' views in 36 nations

We surveyed genetics professionals, patients, and the public about rights to information, to requested services, and to parenthood, posing difficult cases found in practice. In all, 2906 genetics professionals (63%), 499 primary care physicians (59%), 476 North American genetics patients (67%), 394 French patients (51%), 593 German patients (65%), and 988 members of the American public (99%) returned anonymous questionnaires. Results suggest a trend toward increased respect for patient autonomy since an earlier survey in 1985; in most nations more would perform prenatal diagnosis for a couple with 4 daughters who desire a son. A minority (35% in U.S., 14% elsewhere) would perform PND for a deaf couple who want a deaf child, but most (94% in U.S., 62% elsewhere) would do prenatal paternity testing in the absence of rape or incest. About half (51%) would support a woman with fragile X who wants children. The trend to respect patient autonomy was greatest in the U.S. and was least evident in China and India. In general, responses to these cases illustrate a shift away from population or eugenic concerns to a model of genetics focused on the individual.     

School-Based Mental Health Services: A Research Review

This paper provides a synthetic review of research on school-based mental health services. Schools play an increasingly important role in providing mental health services to children, yet most school-based programs being provided have no evidence to support their impact. A computerized search of references published between 1985 and 1999 was used to identify studies of school-based mental health services for children. Study inclusion was determined by (i) use of randomized, quasi-experimental, or multiple baseline research design; (ii) inclusion of a control group; (iii) use of standardized outcome measures; and (iv) baseline and postintervention outcome assessment. The application of these criteria yielded a final sample of 47 studies on which this review is based. Results suggest that there are a strong group of school-based mental health programs that have evidence of impact across a range of emotional and behavioral problems. However, there were no programs that specifically targeted particular clinical syndromes. Important features of the implementation process that increase the probability of service sustainability and maintenance were identified. These include (i) consistent program implementation; (ii) inclusion of parents, teachers, or peers; (iii) use of multiple modalities; (iv) integration of program content into general classroom curriculum; and (v) developmentally appropriate program components. Implications of these findings and directions for future research are discussed.     

Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil

Hereditary breast cancer (HBC) accounts for 5–10% of breast cancer cases and it significantly increases the lifetime risk of cancer. Our objective was to evaluate the sociodemographic variables, family history of cancer, breast cancer (BC) screening practices and the risk profile of cancer affected or asymptomatic at-risk women that undergo genetic counseling for hereditary breast cancer in public Brazilian cancer genetics services. Estimated lifetime risk of BC was calculated for asymptomatic women using the Gail and Claus models. The majority of women showed a moderate lifetime risk of developing BC, with an average risk of 19.7% and 19.9% by the Gail and Claus models, respectively. The average prior probability of carrying a BRCA1/2 gene mutation was 16.7% and overall only 32% fulfilled criteria for a hereditary breast cancer syndrome as assessed by family history. We conclude that a significant number of individuals at high-risk for HBC syndromes may not have access to the benefits of cancer genetic counseling in these centers. Contributing factors may include insufficient training of healthcare professionals, disinformation of cancer patients; difficult access to genetic testing and/or resistance in seeking such services. The identification and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction in this and other countries were clinical cancer genetics is not yet fully established.