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

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

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.

Chromosomal microarray impacts clinical management.

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

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

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

A review of economic evaluations of genetic testing services and interventions (2004-2009).

To review economic evaluations of genetic interventions published between 2004 and 2009 and assess the quality of the identified studies, we searched for economic evaluations of genetic testing and interventions published between 2004 and 2009. Studies that met inclusion criteria were reviewed and their quality then assessed using a validated instrument-the Quality of Health Economic Studies. Of 54 articles identified, 26 met study criteria and were included in the review. These studies span a number of clinical indications, genetic tests, and interventions, but the majority (92%) focuses on genetic interventions for preventive screening and increasing treatment efficacy. The mean quality score for the reviewed studies was 89.8. Comparison of the quality of different study types revealed that cost-utility studies and studies that used a combined decision tree and Markov model had the highest mean quality scores. Clear statements regarding bias, funding source, and study perspective were commonly lacking in the reviewed studies. Although the reviewed studies were of fairly high quality, we found Quality of Health Economic Studies methodology for grading the quality of economic evaluations challenging and observed no statistically significant improvement in quality of studies between the periods of 1995-2004 and 2004-2009.

Health insurance coverage of genetic services in Illinois.

PURPOSE: As a first step toward the improvement of health insurance coverage and reimbursement for genetic services, our study characterizes the current state of health insurance coverage for genetic services in Illinois. METHODS: We used a combination of surveys, interviews, and policy review to obtain data from the largest health insurers in Illinois regarding their coverage of genetic services. RESULTS: The health insurance companies in this study vary widely on coverage of and attitudes toward genetic services. Policies were most consistent across insurance companies when there was widespread professional agreement regarding genetic testing, as in the case of cystic fibrosis carrier screening. Other policies, including criteria for BRCA testing, were extremely variable across insurers and did not always reflect accurate medical information. We also found that health insurance companies in Illinois seem unlikely to reimburse for services billed directly by genetic counselors. CONCLUSIONS: These findings suggest several strategies for improving billing, reimbursement, and insurance coverage of genetic services, including (1) legislative amendments mandating coverage of genetic counselors' services; (2) creating consistent criteria for genetic testing; (3) increasing genetic professionals' involvement in the development of coverage policies; and (4) educating insurance companies about the value of genetic services.

Patient preferences and National Health Service costs: a cost-consequences analysis of cancer genetic services.

The study has three aims; firstly to establish if, having been informed of their risk status and that gene testing is inappropriate for them, low and moderate risk patients have misunderstood or failed to grasp this and want a test that is inappropriate for them. Secondly, to elicit patients' willingness to pay for cancer genetic services. Thirdly, to ascertain the aspects of cancer genetics services that are important to high risk patients and present service configurations prioritised in terms of preferences accompanied by their costs (cost-consequences analysis). Patient preferences were gathered from 120 patients returning a self-administered discrete choice questionnaire issued post genetic risk assessment. Patients at low and moderate risk of developing breast cancer desired inappropriate testing. Patients at high, moderate and low risk of developing genetic cancer were willing to pay up to 3,000 pounds for genetic serviced, which exceeds the current estimated cost of providing testing and counselling. Counselling by a genetics associate accompanied by favourable levels of other attributes provided high utility and substantial cost savings.

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.

Gene patenting and licensing: the role of academic researchers and advocacy groups.

The subject of human gene patenting has received a great deal of media attention, and many individuals and professional societies (including the American College of Medical Genetics) have voiced strong opinions against the patenting of human genes. A particular concern of the medical genetics community is the impact of gene patenting on accessibility to high-quality genetic testing. There has been significantly less media attention and public discussion of licensing practices (e.g., exclusive versus nonexclusive) and their role in promoting or limiting access to genetic testing. Current US government policy strongly encourages universities to commercialize inventions funded by federal grants (Bayh-Dole Act, 1980). Best Practice models for technology licensing have recently been developed by the National Institutes of Health and by the Association of University Technology Managers, and strongly encourage nonexclusive licensing strategies except in cases where this model will not lead to successful commercialization. In the case of genetic testing, nonexclusive licensing strategies (e.g., CF gene) have the significant advantages of encouraging multiple laboratories to make the test readily available, encouraging test improvement, and creating cost-competition. Individual investigators involved in gene discovery, and patient advocacy groups collaborating with academic investigators, have the opportunity to influence the accessibility of diagnostic testing by strongly encouraging their institutions to follow the National Institutes of Health and Association of University Technology Managers Best Practice models of nonexclusive licensing for diagnostic rights to human gene patents.

Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.

Although the pace of gene discovery for rare genetic diseases has accelerated during the past decade, in part, due to the success of the Human Genome Project, translation of these discoveries to clinical utility has lagged behind. In particular, identification of the gene responsible for a Mendelian disorder immediately presents the opportunity for molecular genetics diagnostics to confirm clinical diagnoses, provide accurate genetic counseling information and recurrence risks, as well as carrier testing and prenatal diagnosis opportunities for families. To move these discoveries from a research setting to clinical utility, we describe two successful models for partnerships between research laboratories with Clinical Laboratory Improvement Amendments-certified clinical molecular diagnostic laboratories. Contrary to common misconceptions, molecular genetic testing for very rare diseases can be performed in a high-quality clinical setting in a financially self-sustaining or even profitable manner. Key elements to the success of these models include a Clinical Laboratory Improvement Act-certified diagnostic laboratory with a commitment to very rare genetic disease testing, active involvement of genetic counselors and clinical geneticists, and partnerships with research experts and patient support groups specific to each disease.

"Be ready against cancer, now": direct-to-consumer advertising for genetic testing.

A recent addition to the debate about the benefits and harms of direct-to-consumer (DTC) advertising of medicines and pharmaceuticals is a growing critique of DTC marketing and sale of genetic tests. Academic and policy literatures exploring this issue have, however, tended to focus on the sale of genetic tests, paying rather less attention to the particular implications of advertising. The globalization of broadcast media and ever increasing access to the Internet mean that public exposure to advertising for medical technologies is a reality that national regulatory bodies will be hard pressed to constrain. Working through a case study detailing Myriad Genetics' 2002 pilot advertising campaign for their BRACAnalysis genetic susceptibility test for hereditary breast and ovarian cancer, this paper highlights some of the diverse and often overlooked and unregulated approaches to DTC advertising, and the associated social, ethical and policy implications.

Economic analyses of human genetics services: a systematic review.

PURPOSE: The study's purpose was to conduct a structured review of economic analyses of genetic services. These will be increasingly valuable tools for assessing the clinical and economic outcomes of new medical technologies. METHODS: We searched for economic studies published between January 1990 and August 2004 from a variety of publicly available databases. Articles were first reviewed to determine whether they were original studies, and second to determine whether they were formal cost-effectiveness analyses by established criteria. Articles meeting these criteria were graded using a validated rating scale. RESULTS: Of 149 articles, 63 met established criteria for cost-effectiveness analyses. The majority (87%) were published since 1996. The majority of studies considered adult (31) or prenatal (25) conditions with the remainder considering preconception or pediatric conditions. More than half used life years gained or an ad hoc measure of outcome (e.g., cases detected). Twenty-five percent measured outcome as quality-adjusted life years. The disease areas most considered were cancer (21%) and aneuploidies (18%). The average quality ranking was 87 of 100 possible (range 48-100). Common shortcomings included lack of statement of perspective, lack of discussion of potential bias, and lack of disclosure of funding sources. CONCLUSIONS: Relatively few economic evaluations are available for genetic services, and most are clustered in specific disease areas. Overall quality was high, but varied widely. Most shortcomings that would improve study quality are easy to address. To improve the relevance of these studies, researchers need to incorporate measures of outcome that are familiar to decision makers, including quality-adjusted life years.

Genetic services for familial cancer patients: a follow-up survey of National Cancer Institute Cancer Centers.

PURPOSE: Anecdotal reports suggest that the volume of services offered to individuals concerned with hereditary cancer risk has increased substantially in recent years. As a follow-up to our 1993 survey, we sought to determine how the scope and volume of genetic services has changed between 1993 and 2002. METHODS: We surveyed the 61 National Cancer Institute-designated cancer centers in operation in 2002 using an updated version of the questionnaire from 1993. Analysis included frequencies and summary statistics. RESULTS: The majority of cancer centers responding (46 of 56 centers; 82.1%) provided some genetic services for evaluation of familial cancer, which is a higher proportion than in 1993 (50%; P < .01). Almost all centers (42 of 46 centers; 91.3%) provided services not only to cancer patients and their families, but also to individuals concerned with risk, which is a change (P = .01) from 1993, when 64.7% of centers offered such services. In addition, increases have been found for most other measures of services rendered for familial genetic services. CONCLUSION: As public awareness of cancer susceptibility genes has grown markedly in recent years, the demand has also grown for genetic services to assess familial cancer risk. Major deleterious genetic mutations are rare, and much of the current research in genetic variation focuses on higher prevalence variants that carry lower risks. This may suggest that testing for mutations will move from genetics clinics to primary care and specialty practices. Thus, it is unclear whether the scope and volume of cancer center genetics services will continue to grow as rapidly as they have over the last decade.

A micro costing of NHS cancer genetic services.

This paper presents the first full micro costing of a commonly used cancer genetic counselling and testing protocol used in the UK. Costs were estimated for the Cardiff clinic of the Cancer Genetics Service in Wales by issuing a questionnaire to all staff, conducting an audit of clinic rooms and equipment and obtaining gross unit costs from the finance department. A total of 22 distinct event pathways were identified for patients at risk of developing breast, ovarian, breast and ovarian or colorectal cancer. The mean cost per patient were pound sterling 97- pound sterling 151 for patients at moderate risk, pound sterling 975- pound sterling 3072 for patients at high risk of developing colorectal cancer and pound sterling 675- pound sterling 2909 for patients at high risk of developing breast or ovarian cancer. The most expensive element of cancer genetic services was labour. Labour costs were dependent upon the amount of labour, staff grade, number of counsellors used and the proportion of staff time devoted to indirect patient contact. With the growing demand for cancer genetic services and the growing number of national and regional cancer genetic centers, there is a need for the different protocols being used to be thoroughly evaluated in terms of costs and outcomes.

Clinical genetics in developing countries: the case of Brazil.

There are many impediments to the progress of clinical and medical genetics in developing countries. Higher priorities concerning basic health care usually take precedence over genetic diseases and birth defects among medical professionals and public health officials. This is so in spite of the fact that the global prevalence of these conditions seems higher than in the developed world and that limited resources enhance the burden on individuals, families and populations. Furthermore, as a consequence of recent advances in medical genetics, demand for genetic services has increased, reinforcing the need for programs for the management and prevention of genetic diseases and birth defects, especially at primary health care level. An overview of these issues in Brazil is presented here, with information on the health system, the evolution of medical and clinical genetics in the country, and the situation of medical and clinical genetic services. We discuss proposals for implementing appropriate, ethically acceptable and equitable clinical genetic services for the Brazilian population.

Social contract theory and just decision making: lessons from genetic testing for the BRCA mutations.

Decisions about funding health services are crucial to controlling costs in health care insurance plans, yet they encounter serious challenges from intellectual property protection--e.g., patents--of health care services. Using Myriad Genetics' commercial genetic susceptibility test for hereditary breast cancer (BRCA testing) in the context of the Canadian health insurance system as a case study, this paper applies concepts from social contract theory to help develop more just and rational approaches to health care decision making. Specifically, Daniel's and Sabin's "accountability for reasonableness" is compared to broader notions of public consultation, demonstrating that expert assessments in specific decisions must be transparent and accountable and supplemented by public consultation.

Actor-network theory: a tool to support ethical analysis of commercial genetic testing.

Social, ethical and policy analysis of the issues arising from gene patenting and commercial genetic testing is enhanced by the application of science and technology studies, and Actor-Network Theory (ANT) in particular. We suggest the potential for transferring ANT's flexible nature to an applied heuristic methodology for gathering empirical information and for analysing the complex networks involved in the development of genetic technologies. Three concepts are explored in this paper--actor-networks, translation, and drift--and applied to the case of Myriad Genetics and their commercial BRACAnalysis genetic susceptibility test for hereditary breast cancer. Treating this test as an active participant in socio-technical networks clarifies the extent to which it interacts with, shapes and is shaped by people, other technologies, and institutions. Such an understanding enables more sophisticated and nuanced technology assessment, academic analysis, as well as public debate about the social, ethical and policy implications of the commercialization of new genetic technologies.