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PubMed2003

Impact of gene patents on the cost-effective delivery of care: the case of BRCA1 genetic testing.

BACKGROUND: In 1994/95, two genes, BRCA1/2, associated with a predisposition to breast or ovarian cancer were identified. Genetic testing of deleterious BRCA1/2 mutations consequently can be proposed to individuals with a family history of breast or ovarian cancer to identify who is at risk. The granting of U.S. patents on BRCA1/2 to a privately owned company has led to the monopoly use of a unique technique (Direct Sequencing of the gene, DS) for BRCA1/2 testing in this country. Alternative strategies using prescreening techniques, however, have been experienced worldwide. METHODS: On the basis of data collected at three laboratories of French public hospitals, we carried out a cost-effectiveness study comparing DS to 19 alternative strategies with the number of deleterious BRCA1 mutations detected as the outcome. RESULTS: Results show that the DS strategy presents the highest average cost per mutation detected (9,882.5 Euro) and that there exist strategies using prescreening techniques that can reach similar effectiveness while reducing total costs. Moreover, other strategies can obtain a four- to sevenfold reduction in the average cost per mutation detected as soon as some rates of false negatives (2% to 13%) are deemed to be acceptable. CONCLUSIONS: Results suggest that gene patents with a very broad scope, covering all potential medical applications, may prevent health care systems from identifying and adopting the most efficient genetic testing strategies due to the monopoly granted for the exploitation of the gene. Policy implications for regulatory authorities, in the current context of the extension of BRCA1/2 patents in other countries, are discussed.

Breast Neoplasms↗

PubMed1995

Genetic testing for cancer predisposition: behavioral science issues.

The discovery of major cancer susceptibility genes is likely to create strong pressures for clinical testing from biotechnology companies, insurance carriers, the medical community, and the public. However, before genetic testing for cancer predisposition is made widely available, we must identify the optimum strategies to enhance informed decision making, minimize adverse psychologic consequences, and promote adherence to recommended surveillance. This report provides an overview of behavioral research in these areas and, on the basis of this literature, presents suggestions for developing effective and ethical genetic testing protocols.

Causality↗

PubMed1997

Presymptomatic and predisposition genetic testing: ethical and social considerations.

OBJECTIVE: To provide an overview of the ethical and social concerns that are raised by the use of new genetic tests in asymptomatic persons. DATA SOURCES: Review articles, research studies and legislation related to genetic testing. CONCLUSIONS: Predisposition and presymptomatic testing is possible to any age for adult onset disorders if a mutation is known. Testing without early effective interventions is controversial, especially prenatally and in children. Issues of privacy, discrimination, stigmatization and emotional stress are potential problems. Informed consent is essential before deciding to test. Awareness of the implications of testing can enhance the nurse's advocacy role. IMPLICATIONS FOR NURSING PRACTICE: More studies are necessary to identify the impact of presymptomatic testing on adults and children. Nursing research to identify the family concerns, and to develop effective educational, counseling, and supportive interventions would make a valuable contribution.

Adult↗

PubMed1997

Developmental tasks of childhood and adolescence: implications for genetic testing.

Many reports have recently recommended a careful weighing of the potential benefits and harms of genetic testing (carrier or predisposition) of children and adolescents [Andrews et al., Washington DC: National Academy Press, 1994; Wertz et al., JAMA, 272:875-881, 1994; Clinical Genetics Society (UK), J Med Genet, 31:785-797, 1994; ASHJ/ACMG, Am J Hum Genet, 57:1233-1241, 1995]. Despite this, youngsters are currently being tested for late-onset disorders as well as for carrier status [Reilly and Wertz, Am J Hum Genet, 57:A57, 1995]. Many children to be tested will be those in at-risk families, who may already have experienced the chronic illness or death of a close relative. Thus, reactions to testing will be influenced by prior family experiences. Emotional reactions to testing will be determined by both the child's cognitive and psychosocial development. Testing of adolescents may alter the achievement of developmental tasks, including seeking freedom from parental figures, establishment of personal identity, handling of sexual energies, and remodeling of former idealizations of self and others. There are many potential dilemmas in deciding whether to test a child or adolescent for genetic status. If parents choose not to test, the risk is for later difficulty integrating such information into the self concept. If parents test and do not tell results, the risk is for creating a climate of family secrecy. If parents test and tell results, the risk is robbing the child of the autonomy of his or her own later decision. Perhaps the question of whether to test is not the real question. More than genetic testing, genetic counseling is of crucial importance in thoughtful decisions concerning whether to test an individual child or adolescent. A more important question may be how to provide unaffected children in at-risk families with appropriate counseling. Provision of psychosocial support to at-risk families will enable the child to encounter genetic testing, if necessary, supported with the best possible resources.

Adolescent↗

PubMed2000

Spiritual faith and genetic testing decisions among high-risk breast cancer probands.

Despite widespread access to genetic testing for the BRCA1 and BRCA2 breast cancer susceptibility genes, little is known about rates or predictors of test use among individuals from newly ascertained high-risk families who have self-referred for genetic counseling/testing. The objective of this study was to examine rates of test use within this population. In addition, we sought to determine whether spiritual faith and psychological factors influenced testing decisions. Participants were 290 women with familial breast cancer. All were offered genetic counseling and testing for alterations in the BRCA1 and BRCA2 genes. Baseline levels of spiritual faith, cancer-specific distress, perceived risk, and demographic factors were examined to identify independent predictors of whether participants received versus declined testing. The final logistic model revealed statistically significant main effects for spiritual faith [odds ratio (OR), 0.2; 95% confidence intervals (CIs), 0.1 and 0.5] and perceived ovarian cancer risk (OR, 2.4; 95% CIs, 1.3 and 4.7) and a statistically significant spiritual faith by perceived risk interaction effect. Among women who perceived themselves to be at low risk of developing breast cancer again, those with higher levels of spiritual faith were significantly less likely to be tested, compared with those with lower levels of faith (OR, 0.2; 95% CIs, 0.1 and 0.5). However, among women with high levels of perceived risk, rates of test use were high, regardless of levels of spiritual faith (OR, 1.2; 95% CIs, 0.4 and 3.0). These results highlight the role that spirituality may play in the decision-making process about genetic testing.

Adult↗

PubMed2002

Predictive genetic testing for conditions that present in childhood.

There is a general consensus in the medical and medical ethics communities against predictive genetic testing of children for late onset conditions, but minimal consideration is given to predictive testing of asymptomatic children for disorders that present later in childhood when presymptomatic treatment cannot influence the course of the disease. In this paper, I examine the question of whether it is ethical to perform predictive testing and screening of newborns and young children for conditions that present later in childhood. I consider the risks and benefits of (1) predictive testing of children from high-risk families; (2) predictive population screening for conditions that are untreatable; and (3) predictive population screening for conditions in which the efficacy of presymptomatic treatment is equivocal. I conclude in favor of parental discretion for predictive genetic testing, but against state-sponsored predictive screening for conditions that do not fulfill public health screening criteria.

Age of Onset↗

PubMed1997

Ethical issues in genetic testing for Alzheimer's disease.

The discovery of genetic mutations that increase the risk of developing Alzheimer's disease (AD) brings new promise of predictive testing for the disease. But the quality of information yielded by genetic tests for AD and the implications of this information raise serious questions about the use of such tests. This article examines some of the ethical issues related to predictive genetic testing for AD by examining the interpretation and potential misuses of such data, as well as the factors affecting the development and use of such testing technology. Finally, it poses some recommendations for how genetic testing for AD and the information it yields should be used.

Alzheimer Disease↗

PubMed2003

Genetic testing for polyposis: practical and ethical aspects.

The three autosomal dominant inherited polyposis syndromes, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers polyposis predispose to colorectal cancer as does hereditary non-polyposis colorectal cancer syndrome. Uncovering the genetic background of these four cancer traits provides the possibility for genetic testing of the family members of an affected patient. Before testing identification of the underlying family specific pathogenic mutation is mandatory. This is possible in about 60% to 95% of families. Endoscopic surveillance can be safely discontinued in mutation negative family members and surveillance or prophylactic surgery can be targeted to mutation positive members alone. Testing requires genetic counselling and written informed consent to prevent misunderstanding and to minimise untoward effects such as anxiety. Permanent surveillance and adequate prophylactic treatment for all mutation positive subjects and families is best ensured in national or regional polyposis registries with the capacity to take care of long term follow up from generation to generation.

Adenomatous Polyposis Coli↗

PubMed1999

Genetic testing in hereditary colorectal cancer: indications and procedures.

Approximately 25% of colorectal cancers occur in younger individuals or those with a personal or family history of the disease, suggesting a heritable susceptibility. The minority of these cases are accounted for by one of the well-described hereditary colorectal cancer syndromes, familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). The recent identification and cloning of the genes responsible for FAP and HNPCC, along with other colon cancer susceptibility genes, has led to the wide-spread availability of genetic testing for hereditary colorectal cancer. Genetic testing raises clinical, ethical, legal, and psychosocial questions that must urgently be discussed. This review highlights areas of knowledge and uncertainty about genetic predisposition testing for colorectal cancer and provides clinicians with practical recommendations regarding the proper indications and procedures for this testing.

Adenomatous Polyposis Coli↗

PubMed1996

The social dynamics of genetic testing: the case of Fragile-X.

This article considers a program to screen school children for Fragile-X Syndrome as a way to explore several features of the growing practice of genetic testing in American society. These include the common practice of predictive testing in nonclinical settings; the economic, entrepreneurial, and policy interests that are driving the development of genetic screening programs; and the public support for genetic testing even when there are no effective therapeutic interventions. Drawing from research on popular images of genetics, I argue that cultural beliefs and expectations, widely conveyed through popular narratives, are encouraging the search for diagnostic information and enhancing the appeal of genetic explanations for a growing range of conditions.

Attitude to Health↗

PubMed2003

The experience of loss and anticipation of distress in colorectal cancer patients undergoing genetic testing.

OBJECTIVE: The purpose of this paper is to describe pretest psychological functioning in a sample of colorectal cancer (CRC) patients undergoing genetic testing. We also explored the relationship among demographic, medical, family history and loss variables and current pretest distress, and those related to anticipated posttest distress. METHODS: This paper reports pretest findings from a prospective, longitudinal psychosocial survey. Data are presented on 220 CRC patients at pretest. RESULTS: We found a subgroup of CRC patients that are currently distressed and anticipate becoming depressed if they receive a positive genetic test result. There were significant associations among pretest distress, family history of CRC and loss related to CRC and anticipation of becoming depressed at posttest. CONCLUSIONS: The findings suggest that a subgroup of CRC patient's experience or anticipate distress that may warrant attention. Family history of CRC and losses related to CRC may be important indicators of posttest adjustment.

Adaptation, Psychological↗

PubMed2004

Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial.

This trial tests the hypothesis that confirming a clinical diagnosis of familial hypercholesterolemia (FH) by finding a genetic mutation reduces patients' perceptions of control over the disease and adherence to risk-reducing behaviors. Three hundred forty-one families, comprising 341 hypercholesterolemia probands and 128 adult relatives, were randomized to one of two groups: (a) routine clinical diagnosis; (b) routine clinical diagnosis plus genetic testing (mutation searching in probands and direct gene testing in relatives). The main outcome measures were perceptions of control over hypercholesterolemia, adherence to cholesterol-lowering medication, diet, physical activity, and smoking. There was no support for the main hypothesis: finding a mutation had no impact on perceived control or adherence to risk-reducing behavior (all P-values > 0.10). While all groups believed that lowering cholesterol was an effective way of reducing the risk of a heart attack, participants in whom a mutation was found believed less strongly in the efficacy of diet in reducing their cholesterol level (P = 0.02 at 6 months) and showed a trend in believing more strongly in the efficacy of cholesterol-lowering medication (P = 0.06 at 6 months). In conclusion, finding a mutation to confirm a clinical diagnosis of FH in a previously aware population does not reduce perceptions of control or adherence to risk-reducing behaviors. The pattern of findings leads to the new hypothesis that genetic testing does not affect the extent to which people feel they have control over a condition, but does affect their perceptions of how control is most effectively achieved. Further work is needed to determine whether similar results will be obtained in populations with little previous awareness of their risks.

Adult↗

PubMed2000

Genetic testing, ethical concerns, and the role of patent law.

This article examines the changing debate over gene patenting and the possible connection between patent law and the ethical and policy concerns associated with the use of genetic testing technologies (e.g. the premature implementation and inappropriate marketing of genetic tests). Arguably, patent law helps to form the market forces that lead to these concerns. It is suggested that existing safeguards fail to control these concerns because of, for example, a lack of provider knowledge and an absence of an adequate regulatory framework. While patent law can be associated with a number of ethical and policy concerns, the article also suggests that patent law may have a positive role in reducing them. Patent law provides policy makers and the public with a focal point - the patent holder - upon which to attach accountability for ethical and legal conduct. The article concludes by inviting policy makers to consider the ways in which patent law could be modified in order to optimize its constructive influence.

DNA↗

PubMed2006

Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests.

Several companies utilize direct-to-consumer (DTC) advertising for genetic tests and some, but not all, bypass clinician involvement by offering DTC purchase of the tests. This article examines how DTC marketing strategies may affect genetic counselors, using available cardiovascular disease susceptibility tests as an illustration. The interpretation of these tests is complex and includes consideration of clinical validity and utility, and the further complications of gene-environment interactions and pleiotropy. Although it is unclear to what extent genetic counselors will encounter clients who have been exposed to DTC marketing strategies, these strategies may influence genetic counseling interactions if they produce directed interest in specific tests and unrealistic expectations for the tests' capacity to predict disease. Often, a client's concern about risk for cardiovascular diseases is best addressed by established clinical tests and a family history assessment. Ethical dilemmas may arise for genetic counselors who consider whether to accept clients who request test interpretation or to order DTC-advertised tests that require a clinician's authorization. Genetic counselors' obligations to care for clients extend to interpreting DTC tests, although this obligation may be fulfilled by referral or consultation with specialists. Genetic counselors do not have an obligation to order DTC-advertised tests that have minimal clinical validity and utility at a client's request. This can be a justified restriction on autonomy based on consideration of risks to the client, the costs, and the implications for society.

Cardiovascular Diseases↗

PubMed2005

Cystic fibrosis birth rates in Canada: a decreasing trend since the onset of genetic testing.

OBJECTIVE: To estimate cystic fibrosis (CF) birth rates in Canada from 1971 to 2000 and to assess the population impact of genetic testing in families with a history of CF, after identification of the CF transmembrane conductance regulator gene in 1989. STUDY DESIGN: Age-at-diagnosis data were obtained from the Canadian Cystic Fibrosis Foundation Patient Data Registry and Canadian births for the corresponding years from Canadian Vital Statistics. Estimates of the CF birth rate in each year were based on a nonparametric model that allows the birth rate to vary across the years and adjusts for censoring of currently undiagnosed patients. RESULTS: The overall CF birth rate from 1971-1987 was 1/2714 with no increasing or decreasing trend. Beginning in 1988, 1 year before identification of the CF transmembrane conductance regulator gene, estimated CF birth rates followed a linear decline to an estimated rate of 1/3608 in 2000. CF birth rates may have stabilized in the last few years, but further decline may occur with implementation of carrier screening in the general population. CONCLUSIONS: These results demonstrate the temporal association of genetic testing and declining CF birth rates in Canada. They may assist in decisions relating to the allocation of resources for prenatal and neonatal CF screening programs.

Birth Rate↗

PubMed1997

Long-term cognitive and emotional impact of genetic testing for carriers of cystic fibrosis: the effects of test result and gender.

The cognitive and emotional responses to genetic testing for carriers of cystic fibrosis (CF) of 241 female and 36 male carriers and a matched sample who had received a negative screening result were compared 3 years after testing. The main predictor of responses to testing was the type of result received. Gender differences in response to screening were also found: Women were more likely to feel relieved and less likely than men to feel indifferent, regardless of test results. There was an interaction between test results and gender for feeling happy and healthy about test results. The greater impact of testing on women may reflect gender differences in appraisal or in coping with the threat of being a carrier for a genetic disorder.

Adult↗

PubMed2000

Separating predictive genetic testing from snake oil: regulation, liabilities, and lost opportunities.

This article explores the extent to which completion of maps of the human genome, coupled with the introduction of technology that will accelerate the identification of gene and protein function, have introduced immeasurable potential to advance life science and health care through genetic profiling. In light of definitional uncertainty, the regulatory and legal environment surrounding predictive genetic testing threatens to impede clinical utilization of genetic profiling technologies that could significantly improve human health. Especially given that genetic testing technologies have been stigmatized in the public and medical community, they must enter the marketplace with a regulatory framework that assures safety, efficacy, and market responsibility.

Biotechnology↗

PubMed2006

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.

Hearing loss (HL) occurs in approximately 2 out of every 1,000 births and is genetic in origin in approximately 50% of cases. This high incidence coupled with the increasing number of genes implicated in HL and the trend toward universal newborn screening led to the establishment of the Genetics of Hearing Loss Clinic at The Children's Hospital of Philadelphia to manage the diagnosis, genetic screening, and counseling of families with an affected child. To date 500 individuals have been evaluated from 1999 to 2004. To determine the cause of their HL and screen for syndromic forms of HL, individuals were offered a panel of tests. Depending on the type and severity of the HL, recommendations included GJB2 mutation analysis, renal and thyroid function studies, a CT scan of the temporal bones, an ophthalmology evaluation, an EKG, and, at times, additional genetic tests. Of the 500 patients evaluated 70 (14%) had a syndromic etiology for their HL. Twenty-eight different syndromic etiologies were identified. Enlarged vestibular aqueducts (EVAs) and/or Mondini malformations were seen in 18% of individuals with HL who had a CT or MRI of the temporal bones. Genetic testing of the GJB2 gene was completed for 310 of the 377 patients with bilateral sensorineural HL (82.2%). Nineteen different variants were identified in the GJB2 gene. Through GJB2 mutational analysis, clinical examination, and laboratory testing, a definitive etiologic diagnosis was established in 110/500 (22%) of patients.

Adult↗