The economics of clinical genetics services. III. Cognitive genetics services are not self-supporting.

We investigated the amount of time required to provide, and the charges and reimbursement for, cognitive genetics services in four clinical settings. In a prenatal diagnostic center, a mean of 3 h/couple was required to provide counseling and follow-up services with a mean charge of $30/h and collection of $27/h. Only 49% of personnel costs were covered by income from patient charges. In a genetics clinic in a private specialty hospital, 5.5 and 2.75 h were required to provide cognitive services to each new and follow-up family, respectively. The mean charge for each new family was $25/h and for follow-up families $13/h. The amount collected was less than 25% of that charged. In a pediatric genetics clinic in a large teaching hospital, new families required a mean of 4 h and were charged $28/h; follow-up families also required a mean of 4 h, and were charged $15/h. Only 55% of the amounts charged were collected. Income from patient charges covered only 69% of personnel costs. In a genetics outreach setting, 5 and 4.5 h were required to serve new and follow-up families, respectively. Charges were $25/h and $12/h, and no monies were collected. In all clinic settings, less than one-half of the total service time was that of a physician, and more than one-half of the service time occurred before and after the clinic visit. In no clinic setting were cognitive genetics services self-supporting. Means to improve the financial base of cognitive genetics services include improving collections, increasing charges, developing fee schedules, providing services more efficiently, and seeking state, federal, and foundation support for services.     

The economics of clinical genetics services. IV. Financial impact of outpatient genetic services on an academic institution.

Those clinical genetic services that do not involve laboratory tests or procedures--i.e., the "cognitive" services such as diagnosis, management, and counseling--are labor-intensive, time-consuming, and not self-supporting. However, as a result of an evaluation at a genetics clinics, a patient will often receive other services at the same medical center. The full economic impact of the genetics clinic may be underappreciated. Therefore, at one medical center we examined (a) three settings that delivered genetics services and (b) two specialty clinics providing services to children with genetics conditions; and we calculated charges and payments for an unselected, consecutive group of outpatients. The results showed that cognitive genetics services accounted for a variable, but generally low, percentage of both the professional (generally physicians') and total charges accumulated by patients as a consequence of their visit to the genetics clinic. With laboratory and procedural charges included, patients seen in general genetics clinics (or their insurance plans) paid up to three times as much to the medical center and to its health professionals as to the genetics professional. These data confirm that clinical genetics services, while not generating enough income to cover their own costs, bring considerable revenue to the medical center. This fact alone should prove useful to the director of clinical genetics programs when they are negotiating finances with institutional administrators.     

The economics of clinical genetics services. I. Preview.

To an ever increasing extent, a variety of economic factors are affecting the delivery of clinical genetics services. These economic factors, which we enumerate with an historical perspective, influence how genetics professionals, patients, and third-party payers relate to genetics services. From the perspectives of each of these interested parties, the deficiency of objective information about the current economic situation is striking. The recent history of charges and reimbursement for our genetics clinic illustrates both one kind of data that is readily available and how modification of administrative procedures can improve the economic balance sheet. However, several characteristics of clinical genetics limit the possibility of economic self-sufficiency.     

Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group.

The most recent discoveries in molecular genetics today are rapidly incorporated into clinical practice and have resulted in an unprecedented expansion of medical options. Despite this, the impact of molecular genetics on health care services has yet to be evaluated. In order to begin this assessment, clinical genetic workload was prospectively collected from cases where molecular genetic testing was considered. Participation involved all 16 urban and outreach genetic centers regionalized to service the entire population of 10 million within the Canadian province of Ontario. Molecular genetic testing has been clinically available for > 5 years, as part of a publicly supported genetic network in which there are no direct costs to residents. Cross-sectional data were collected on 1,101 clients from 544 families involving 1,742 clinical actions relating to diseases in which molecular (DNA) tests were considered. Median times per clinical genetic action were as follows: formal counseling (60 min), case review (15 min), phone call (10 min), letter (15 min), specimen arrangement (15 min), and interpretation of molecular test results (10 min). Times varied significantly with the inheritance pattern of the disease, topics involved, and location. For any given genetic case, multiple clinical actions resulted in substantial time spent by the genetic professional. Clerical and administrative times were not captured. Workload unit measurements similar to those currently employed in hospital laboratories may be helpful for predicting the clinical resources and personnel that will be required as the use of molecular genetics by other medical specialties increases.     

Education of nurses in genetics.

The need for education of nurses in genetics was articulated more than 25 years ago. This article reviews the knowledge of practicing nurses about genetics as well as the content of genetics in nursing curricula. Implementation of federal legislation that mandated increased availability of genetic services and genetics education provided support for the examination of genetics content in curricula for health professionals, including nurses, and for the development of model programs to expand this content. Recent efforts to begin to develop a pool of nurse faculty who are well prepared in genetics will be described, as well as programs to provide the necessary content through continuing-education efforts. These efforts are expected to substantially improve the capability of nurses to contribute more effectively in the delivery of genetic services.     

Molecular genetics in clinical practice: evolution of a DNA diagnostic service.

The development of a molecular genetics diagnostic service over a three year period was studied in a National Health Service region with a population of three million. Starting from a time when few diagnostic applications were possible, the number of disorders and the overall demand had grown rapidly. Conditions for which molecular genetic diagnosis had been provided included Duchenne and Becker muscular dystrophy, myotonic dystrophy, Huntington''s disease, and cystic fibrosis. Of 405 requests for diagnosis, 151 (37%) related to determination of carrier state, 187 (46%) to determining the feasibility of future prenatal diagnosis, and 67 (17%) were prenatal diagnostic biopsy samples, almost exclusively of first trimester chorion. DNA samples for future diagnostic use with a wide range of genetic disorders had also been banked. The study showed a need for close integration with clinical genetics services to allow satisfactory genetic counselling and interpretation of risks.     

The genetic risk screening, education, and referral program: a model program for training of health professionals.

This report describes a statewide program which trains family-planning personnel to provide genetic risk screening, to educate clients about potential genetic risks, and to make appropriate referrals to genetics centers. The program is unique in that training and service delivery are all done within the structure and agencies of the family-planning councils of Pennsylvania. Through the collaboration of the Pennsylvania Department of Health, the family-planning councils, and trainers from clinical genetics centers, a uniform and comprehensive program for training and service delivery has evolved. This program now provides genetic risk screening for nearly 100,000 women/year, many of whom are from groups typically underserved by genetics services.     

Care of the terminally ill at home.

Care of the terminally ill at home demands the attention of the medical and paramedical community. Patients who choose to remain at home while death approaches must be given full physical, emotional and psychological support by the attending physician and home care services personnel. In 1974 the Vancouver early hospital discharge home care service provided such care to 47 patients. Generally both patient and family were happy with the program. A few families were unable to cope for more than a few days but most continued the care almost to the end, a large number (14) keeping the patient at home until death occurred. Added benefits are the lower costs and the freeing of hospital beds.     

Service Use and Costs for People with Long-Term Neurological Conditions in the First Year following Discharge from In-Patient Neuro-Rehabilitation: A Longitudinal Cohort Study

Background

Knowledge of the configuration and costs of community rehabilitation and support for people with long-term neurological conditions (LTNCs) is needed to inform future service development and resource allocation. In a multicentre prospective cohort study evaluating community service delivery during the year post-discharge from in-patient neuro-rehabilitation, a key objective was to determine service use, costs, and predictors of these costs.

Methods

Patients consecutively admitted over one year to all nine London specialised (Level 1) in-patient neuro-rehabilitation units were recruited on discharge. They or their carers completed postal/web-based questionnaires at discharge and six and twelve months later, providing demographic data and measures of impairment, disability, service needs and provision. This paper describes health and social care service use, informal care and associated costs. Regression models using non-parametric boot-strapping identified predictors of costs over time.

Results

Overall, 152 patients provided consistent data. Mean formal service costs fell significantly from £13,290 (sd £19,369) during the first six months to £9,335 (sd £19,036) from six-twelve months, (t = 2.35, P<0.05), mainly due to declining health service use. At six months, informal care was received on average for 8.2 hours/day, mean cost £14,615 (sd 23,305), comprising 52% of overall care costs. By twelve months, it had increased to 8.8 hours per day, mean cost £15,468 (sd £25,534), accounting for 62% of overall care costs. Being younger and more disabled predicted higher formal care costs, explaining 32% and 30% of the variation in costs respectively at six and twelve months.

Conclusion

Community services for people with LTNCs carry substantial costs that shift from health to social care over time, increasing the burden on families. Prioritising rehabilitation services towards those in greatest need could limit access to others needing on-going support to promote their independence and reduce their reliance on families. This argues for greater investment in future rehabilitation services.     

Medical and Health Care in State Residential Institutions for Children and Youths: A Report of Survey Findings in Five Hospitals

A survey of five Northern California state residential institutions showed considerable variation in the type and amount of medical services provided for children and youths. There was no standard policy for relationships with regional centers, use of community hospitals, vision and hearing assessments, speech and rehabilitation therapy, or genetic and maternal health services. Some hospitals had no staff members certified to carry out cardiopulmonary resuscitation (CPR). Not all staff physicians and other health professionals working in state hospitals had specific training in the areas of genetics, seizure control and physical rehabilitation medicine. While all five state hospitals are involved in training personnel, there is a need to develop a statewide plan for the better sharing of knowledge and expertise of the state hospital personnel in the training of pediatricians and others.     

OMA's Continuing Education Program

Confronted with the inability to offer access to trained mental health personnel to their remote rural community, a private medical group practice in California recruited and integrated psychiatric social workers in their clinic. The rapid acceptance of these newer mental health professionals by community members of all economic levels and by group physicians confirms the success of this program, now in its fourth year, and rising community interest in mental health services.The group practice prototype affords a unique opportunity for innovation in community health care delivery in outlying areas with their traditional difficulties in attracting health care professionals.     

Genetic support groups in the delivery of comprehensive genetic services.

This research sought information about the services provided by genetic support groups, their members' experiences in obtaining genetic and related services, and members' recommendations for improving services. Results from a survey of 43 directors of genetic support groups showed that these organizations not only provide their members with a wide range of informational and supportive services but also address the need for education of both the public and health professionals about genetic disorders. A second survey of 931 members of genetic support groups found that, although they obtained genetic information from a variety of professional and informal sources, many of them experienced barriers to obtaining sufficient genetic information. Respondents called for professionals to improve their interpersonal skills in working with clients and to assist families in obtaining a wider variety of services. On the basis of these findings, a service model and priorities are proposed to bring together genetic specialists, community professionals, and genetic support groups for the delivery of comprehensive services to individuals and families with genetic disorders.     

Cost Evaluation of Reproductive and Primary Health Care Mobile Service Delivery for Women in Two Rural Districts in South Africa

Background

Cervical cancer screening is a critical health service that is often unavailable to women in under-resourced settings. In order to expand access to this and other reproductive and primary health care services, a South African non-governmental organization established a van-based mobile clinic in two rural districts in South Africa. To inform policy and budgeting, we conducted a cost evaluation of this service delivery model.

Methods

The evaluation was retrospective (October 2012–September 2013 for one district and April–September 2013 for the second district) and conducted from a provider cost perspective. Services evaluated included cervical cancer screening, HIV counselling and testing, syndromic management of sexually transmitted infections (STIs), breast exams, provision of condoms, contraceptives, and general health education. Fixed costs, including vehicle purchase and conversion, equipment, operating costs and mobile clinic staffing, were collected from program records and public sector pricing information. The number of women accessing different services was multiplied by ingredients-based variable costs, reflecting the consumables required. All costs are reported in 2013 USD.

Results

Fixed costs accounted for most of the total annual costs of the mobile clinics (85% and 94% for the two districts); the largest contributor to annual fixed costs was staff salaries. Average costs per patient were driven by the total number of patients seen, at $46.09 and $76.03 for the two districts. Variable costs for Pap smears were higher than for other services provided, and some services, such as breast exams and STI and tuberculosis symptoms screening, had no marginal cost.

Conclusions

Staffing costs are the largest component of providing mobile health services to rural communities. Yet, in remote areas where patient volumes do not exceed nursing staff capacity, incorporating multiple services within a cervical cancer screening program is an approach to potentially expand access to health care without added costs.     

Coding and Reimbursement for Weight Loss Surgery: Best Practice Recommendations

Objective: To review the use and usefulness of billing codes for services related to weight loss surgery (WLS) and to examine third party reimbursement policies for these services. Research Methods and Procedures: The Task Group carried out a systematic search of MEDLINE, the Internet, and the trade press for publications on WLS, coding, reimbursement, and coding and reimbursement policy. Twenty‐eight articles were each reviewed and graded using a system based on established evidence‐based models. The Massachusetts Dietetics Association provided reimbursement data for nutrition services. Three suppliers of laparoscopic WLS equipment provided summaries of coding and reimbursement information. WLS program directors were surveyed for information on use of procedure codes related to WLS. Results: Recommendations focused on correcting or improving on the current lack of congruity among coding practices, reimbursement policies, and accepted clinical practice; lack of uniform coding and reimbursement data across institutions; inconsistent and/or inaccurate diagnostic and billing codes; inconsistent insurance reimbursement criteria; and inability to leverage reimbursement and coding data to track outcomes, identify best practices, and perform accurate risk‐benefit analyses. Discussion: Rapid changes in the prevalence of obesity, our understanding of its clinical impact, and the technologies for surgical treatment have yet to be adequately reflected in coding, coverage, and reimbursement policies. Issues identified as key to effective change include improved characterization of the risks, benefits, and costs of WLS; anticipation and monitoring of technological advances; encouragement of consistent patterns of insurance coverage; and promotion of billing codes for WLS procedures that facilitate accurate tracking of clinical use and outcomes.     

Paul Polani and the development of medical genetics

Paul Polani (1914–2006) was one of the key figures internationally in the beginnings and development of medical genetics. Best remembered scientifically for his highly original work on the basis of human sex chromosome disorders, notably Turner syndrome, he pioneered the application of basic biological research to clinical genetic problems. The unit that he founded in 1960, at Guys Hospital, London, provided an unparalleled model for combined research and service in medical genetics across a wide range of laboratory areas and helped to establish medical genetics as a specific discipline.     

Family doctors and change in practice strategy since 1986.

OBJECTIVES--To investigate the changes in practice strategy that have taken place since 1986. DESIGN--Comparison of practices in 1986 and 1992. SETTING--93% of group practices (26 practices) in a single family health services authority. MAIN OUTCOME MEASURES--Changes in staffing, premises, equipment, clinic services, and incomes between 1986 and 1992. RESULTS--In 1986, 28% of practices employed a nurse; in 1992, 92% did so. Between 1986 and 1992, 14 cost-rent schemes costing more than 10,000 pounds had been started. Certain practices, designated innovators, were more likely to possess specified items of equipment than other practices. Computer ownership was widespread: 77% of practices had a computer, compared with 36% in 1986. In 1992, 16 practices had a manager, compared with 10 in 1986. Clinic services provided by more than half of practices were well established services (antenatal, for example), new services for which a payment had been introduced (such as diabetes, asthma, minor surgery), or the more readily provided "new" clinic services (diet, smoking cessation). Gross income increased, but so did practice costs, especially for innovators. Practices in the more affluent area of the family health services authority were still more likely to invest in their premises and staff, and to provide more services than those in the declining area. In the more affluent area, practices had higher costs but also higher incomes. CONCLUSION--Between 1986 and 1992, practices in this area invested heavily in equipment and services, but differences remain, depending on the location of the practice. Investment has increased, particularly in the more deprived part of the area, so that the inconsistency in standards has been much reduced. Practice incomes have risen, but so also have workload and costs.     

Contribution of genetics to ecological restoration

Ecological restoration of degraded ecosystems has emerged as a critical tool in the fight to reverse and ameliorate the current loss of biodiversity and ecosystem services. Approaches derived from different genetic disciplines are extending the theoretical and applied frameworks on which ecological restoration is based. We performed a search of scientific articles and identified 160 articles that employed a genetic approach within a restoration context to shed light on the links between genetics and restoration. These articles were then classified on whether they examined association between genetics and fitness or the application of genetics in demographic studies, and on the way the studies informed restoration practice. Although genetic research in restoration is rapidly growing, we found that studies could make better use of the extensive toolbox developed by applied fields in genetics. Overall, 41% of reviewed studies used genetic information to evaluate or monitor restoration, and 59% provided genetic information to guide prerestoration decision‐making processes. Reviewed studies suggest that restoration practitioners often overlook the importance of including genetic aspects within their restoration goals. Even though there is a genetic basis influencing the provision of ecosystem services, few studies explored this relationship. We provide a view of research gaps, future directions and challenges in the genetics of restoration.     

Knowledge of genetics among residents in obstetrics and gynecology.

A supervised genetics examination was administered to 76 obstetrics and gynecology (ob/gyn) residents from 15 different institutions in the Philadelphia area. The questions were specifically designed to be applicable to obstetrical practice. Overall, the mean score was 69% (range 32%-88%). Using the nonparametric Mann-Whitney rank sum test, we found that the 25 residents from institutions with an obstetrics-gynecology-genetics (OGG) program, coordinated by an obstetrician/gynecologist board certified in clinical genetics, had statistically significant higher scores than the remaining 51 residents from institutions without an OGG program (77% vs. 65%, respectively; P < .001). This study demonstrates that knowledge of genetics among residents in ob/gyn is deficient, especially among residents at institutions without OGG programs. Special efforts should be made to provide genetics education to these individuals. We propose that more obstetricians be encouraged to pursue postgraduate training in genetics in light of the rapid development of medical genetics; its application to prenatal screening, diagnosis, and counseling; the anticipated utilization of genetics services; and the need for educational initiatives geared toward ob/gyn patients.     

Conservation genetics: Linking science with practice

Conservation genetics is a well‐established scientific field. However, limited information transfer between science and practice continues to hamper successful implementation of scientific knowledge in conservation practice and management. To mitigate this challenge, we have established a conservation genetics community, which entails an international exchange‐and‐skills platform related to genetic methods and approaches in conservation management. First, it allows for scientific exchange between researchers during annual conferences. Second, personal contact between conservation professionals and scientists is fostered by organising workshops and by popularising knowledge on conservation genetics methods and approaches in professional journals in national languages. Third, basic information on conservation genetics has been made accessible by publishing an easy‐to‐read handbook on conservation genetics for practitioners. Fourth, joint projects enabled practitioners and scientists to work closely together from the start of a project in order to establish a tight link between applied questions and scientific background. Fifth, standardised workflows simplifying the implementation of genetic tools in conservation management have been developed. By establishing common language and trust between scientists and practitioners, all these measures help conservation genetics to play a more prominent role in future conservation planning and management.     

The duty to recontact: attitudes of genetics service providers

The term "duty to recontact" refers to the possible ethical and/or legal obligation of genetics service providers (GSPs) to recontact former patients about advances in research that might be relevant to them. Although currently this practice is not part of standard care, some argue that such an obligation may be established in the future. Little information is available, however, on the implications of this requirement, from the point of view of GSPs. To explore the opinions of genetics professionals on this issue, we sent a self-administered questionnaire to 1,000 randomly selected U.S. and Canadian members of the American Society of Human Genetics. We received 252 completed questionnaires. The major categories of respondents were physician geneticist (41%), Ph.D. geneticist (30%), and genetic counselor (18%); 72% of the total stated that they see patients. Respondents indicated that responsibility for staying in contact should be shared between health professionals and patients. Respondents were divided about whether recontacting patients should be the standard of care: 46% answered yes, 43% answered no, and 11% did not know. Those answering yes included 44% of physician geneticists, 53% of Ph.D. geneticists, and 31% of genetic counselors; answers were statistically independent of position or country of practice but were dependent on whether the respondent sees patients (43% answered yes) or not (54% answered yes). There also was a lack of consensus about the possible benefits and burdens of recontacting patients and about various alternative methods of informing patients about research advances. Analysis of qualitative data suggested that most respondents consider recontacting patients an ethically desirable, but not feasible, goal. Points to consider in the future development of guidelines for practice are presented.