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. II. A time analysis of a medical genetics clinic.

In a time-and-reimbursement analysis of our clinical genetics service, we documented (1) the time spent by professionals and staff in serving families before, during, and after the clinic visit; (2) the charges and reimbursement for the services provided; and (3) the relationship between income from clinical practice and the personnel costs of the clinic. We found that newly referred and returning families required 7.1 and 4.0 h, respectively. Average collections for professional services were +135 (+19/h) for new families and +49 (+12/h) for returning families. Income from clinical practice covered 37% of the clinical portion of personnel costs. These results indicate that cognitive clinical genetics services are labor intensive, yield low payments per service hour, and are not financially self-supporting. To improve the economic status of genetics clinics, administrators might consider rendering services more efficiently; increasing charges for services; billing for all services provided to all family members; billing for all genetics professionals, including counselors and social workers; and requesting payment at the time of service.     

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.     

Using medical genetics applications to educate for computer competence.

This article proposes specific areas of computing competence and illustrates how these skills can be acquired as an integral part of the curriculum of medical genetics. Geneticists are at the forefront in the use of computers for medical care, because of the driving force of the Human Genome Project. Computer searching of international data bases is the most efficient method to keep current with the explosion in molecular genetics data and with its immediate relevance to clinical care. The use of computers in genetics education could go far beyond the use of computer-assisted instruction (CAI) to show how to use computer systems to assist with clinical decisions. The proposed basic computer skills can be obtained using genetics software. The six proposed skills include the use of (1) microcomputers, (2) productivity software, (3) CAI, patient simulations and specific application programs, (4) remote computers, (5) data bases and knowledge bases, and (6) computers to improve the clinical care of patients.     

Managing genetic testing: the relative powerlessness of actors in stable practices

Abstract

Genetics is a field in which ethical and social problems have been most pressing. Despite this, new tests often are introduced almost immediately after the isolation of a new gene. Considerations of whether a particular test should be introduced at all seem to have little effect on the development and introduction of new tests. This paper explores how this lack of social and ethical assessment can be understood. In order to do so, the sociohistorical context of clinical genetics and the way in which this practice came about will be analysed in this paper with respect to the Dutch service for clinical genetics. It will be argued that the fragmented way in which tasks and responsibility have become distributed within clinical genetics services has led to a situation in which actors seem to have no control over the introduction of genetic tests.     

Human genome research and the public interest: progress notes from an American science policy experiment.

This essay reviews the efforts of the U.S. Human Genome Project to anticipate and address the ethical, legal, and social implications of new advances in human genetics. Since 1990, approximately $10 million has been awarded by the National Institutes of Health and the Department of Energy, in support of 65 research, education, and public discussion projects. These projects address four major areas of need: (1) the need for both client-centered assessments of new genetic services and for improved knowledge of the psychosocial and ethnocultural factors that shape clients' clinical genetic experiences; (2) the need for clear professional policies regarding human-subject research, clinical practice standards, and public health goals in human genetics; (3) the need for social policy protection against unfair access to and use of personal genetic information; and (4) the need for improved public and professional understanding and discussion of these issues. The Human Genome Project's goal is to have defined, by 1995, policy options and programs capable of addressing these needs.     

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.     

Strategies for the assessment of genetic coronary artery disease risk.

In atherosclerotic diseases, genetic factors have a substantial influence on the age of onset and the frequency and severity of clinical symptoms, as well as response to therapy. In myocardial infarctions occurring at young age, genetics may be the leading causative factor. Despite such a prominent role of genetics in the pathophysiology of atherosclerosis clinical risk assessment and therapeutic decision making are still based on classical risk factors. In this paper we analyse the reasons for the current lack of predictive power of genetics-based algorithms and we speculate why future developments might open the door to a role for genetics in the clinical management of atherosclerosis.     

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.     

Epistasis and Its Implications for Personal Genetics

The widespread availability of high-throughput genotyping technology has opened the door to the era of personal genetics, which brings to consumers the promise of using genetic variations to predict individual susceptibility to common diseases. Despite easy access to commercial personal genetics services, our knowledge of the genetic architecture of common diseases is still very limited and has not yet fulfilled the promise of accurately predicting most people at risk. This is partly because of the complexity of the mapping relationship between genotype and phenotype that is a consequence of epistasis (gene-gene interaction) and other phenomena such as gene-environment interaction and locus heterogeneity. Unfortunately, these aspects of genetic architecture have not been addressed in most of the genetic association studies that provide the knowledge base for interpreting large-scale genetic association results. We provide here an introductory review of how epistasis can affect human health and disease and how it can be detected in population-based studies. We provide some thoughts on the implications of epistasis for personal genetics and some recommendations for improving personal genetics in light of this complexity.     

青岛都市圈生态系统服务-经济发展时空协调性分析及优化利用

城镇化进程伴随着生态用地流失与生态系统服务下降。对生态系统服务与经济发展间一致性的量化与分析,是厘清区域差异、优化空间布局、实现可持续发展的基础。基于青岛都市圈1990-2017年遥感数据与统计年鉴数据,使用当量因子法对生态系统服务价值（Ecosystem Service Value,简称ESV）进行货币化定量核算,进而构建生态系统服务与经济一致性指数,以探讨二者时空协调性特征,并通过驱动因子分析提出区域生态系统服务与经济平衡的优化改善建议。研究表明：受土地利用变化影响,青岛都市圈2017年总ESV较1990年下降11.34亿元。空间上,ESV表现出北东-南西向展布的"高-低-高"分布格局。整体上,青岛都市圈生态系统服务和经济集聚表现出不协调,且不协调范围有所扩大;生态系统服务集聚高于经济集聚主要发生在青岛都市圈西北方向的城市,而经济集聚高于生态系统服务集聚的地区主要分布在东部沿海地带。驱动因子分析表明,ESV减少主要受与城市中心距离的影响。因此,经济集聚高于生态系统服务集聚的地区应管控城镇用地低效蔓延并加强集约利用,同时对具备重要生态功能的要素实施保护;生态系统服务集聚高于经济集聚的地区应积极探索新形势下生态产品转化路径,以实现区域之间的生态与经济协同发展。     

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.     

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.     

A sociobehavioural perspective on genetic testing and counselling for heritable breast,ovarian and colon cancer.

Testing for susceptibility to heritable breast, ovarian and colon cancer has unique psychosocial costs. Negative test results may not be sufficient to relieve anxiety, and positive results can cause sufficient distress to compromise patient compliance with surveillance and risk reduction measures. More needs to be learned about how sociocultural factors affect the understanding of risk, how decisions to undergo testing are made and how information about increased risk affects family dynamics. As the demand for testing and counselling grows, health care providers will be faced with new challenges and dilemmas. A better understanding of genetics by the public is needed to mitigate deterministic attitudes that can lead to the neglect of health promotion. Also of concern are the socioeconomic implications of being identified as having a high risk for heritable cancer and the dangers inherent in using genetics to explain sociological phenomena. Health care providers must take the lead in ensuring that developments in genetics are used to the benefit of all.     

An Atlas on genes and chromosomes in oncology and haematology.

The "Atlas of Genetics and Cytogenetics in Oncology and Haematology" http://www.infobiogen.fr/services/chromcancer is a peer-reviewed and free internet database aimed at genes involved in cancer, cytogenetics and clinical entities in cancer, and cancer-prone diseases. It contains concise and updated review articles, a huge portal towards genetics and/or cancer databases, and teaching materials in genetics for the students. This database is made for and by clinicians and researchers, who are encouraged to contribute. The Atlas is part of the genome project. It provides information in cancer epidemiology. It contributes to research, university and post-university teaching, and telemedicine. It contributes to 'meta-medicine', a mediation using new information technology, between the overflowing information provided by the scientific community and the individual practitioner.     

Optimal control of population recovery – the role of economic restoration threshold

A variety of ecological systems around the world have been damaged in recent years, either by natural factors such as invasive species, storms and global change or by direct human activities such as overfishing and water pollution. Restoration of these systems to provide ecosystem services entails significant economic benefits. Thus, choosing how and when to restore in an optimal fashion is important, but has not been well studied. Here we examine a general model where population growth can be induced or accelerated by investing in active restoration. We show that the most cost‐effective method to restore an ecosystem dictates investment until the population approaches an ‘economic restoration threshold’, a density above which the ecosystem should be left to recover naturally. Therefore, determining this threshold is a key general approach for guiding efficient restoration management, and we demonstrate how to calculate this threshold for both deterministic and stochastic ecosystems.     

Unravelling the effects of the environment and host genotype on the gut microbiome

To what extent do host genetics control the composition of the gut microbiome? Studies comparing the gut microbiota in human twins and across inbred mouse lines have yielded inconsistent answers to this question. However, candidate gene approaches, in which one gene is deleted or added to a model host organism, show that a single host gene can have a tremendous effect on the diversity and population structure of the gut microbiota. Now, quantitative genetics is emerging as a highly promising approach that can be used to better understand the overall architecture of host genetic influence on the microbiota, and to discover additional host genes controlling microbial diversity in the gut. In this Review, we describe how host genetics and the environment shape the microbiota, and how these three factors may interact in the context of chronic disease.     

Atlas of Genetics and Cytogenetics in Oncology and Haematology,year 2003

The 'Atlas of Genetics and Cytogenetics in Oncology and Haematology' (http://www.infobiogen.fr/services/chromcancer) contains concise and updated cards on genes involved in cancer, cytogenetics and clinical entities in oncology, and cancer-prone diseases, a portal towards genetics/cancer, and teaching materials in genetics. This database is made for and by researchers and clinicians, who are encouraged to contribute. The Atlas is part of the genome project and it participates in research on cancer epidemiology.     

Personalized Cancer Medicine 2011: Toward Individualized Cancer Treatments. XV International Fritz Bender Symposium Held on February 21 to 23, 2011 at Matrix, Biopolis, Singapore

At the symposium, approaches to individualized cancer medicine were considered, from basic sciences (genetics, epigenetics, biological tumor signatures) to clinical investigations, including strategies about how best to undertake the clinical development of targeted agents.     

Perceptions of genetics research as harmful to society: differences among samples of African-Americans and European-Americans

Genetics has the potential not only to find cures for diseases, but to possess the mechanisms to change the bio-social make-up of populations. A specific question that has arisen on this issue is how developments in genetic technology may intersect with existing race and ethnic relations. Evidence of the racialization of some genetic disorders has been demonstrated elsewhere. The purpose of this study is to compare and contrast African-American and European-American attitudes on the benefits of genetics research for society. Findings show that African-Americans were more likely to say genetics research is harmful for society. This relationship remained statistically significant after controls were introduced in a regression model. Demographic characteristics and self-rated knowledge of genetics had no effect on attitudes among African-Americans. A willingness to use genetic services correlated with favorable attitudes. Differences in social position may lead some groups to opposing interpretations and symbolic meanings of genetics. This may be true in the context of this study because the social meanings of genetics may be tainted by racialization, historical attempts at eugenics, and the potential abuse of genetics targeting groups partially defined by superficial genetic characteristics.