Closing the gaps in genetics legislation and policy: a report by the new york state task force on life and the law

The New York State Task Force on Life and the Law, a state bioethical policy commission, recently completed a project addressing the ethical, legal, and social concerns surrounding the predictive uses of genetic testing. Its report, Genetic Testing and Screening in the Age of Genomic Medicine, makes legislative, public policy, and practice recommendations on a host of issues. As part of this project, the Task Force reviewed the current policy and legislative landscapes related to confidentiality protections for genetic information and the use of genetic information by insurers. It also assessed requirements for informed consent to clinical genetic testing and for the use of clinical samples for genetics research. The Task Force considered gaps and unintended consequences of relevant genetic testing legislation and assessed its flexibility to address new uses of genetic testing, such as pharmacogenetic testing, and new ways of offering tests, such as multiplex testing panels. The Task Force also considered the relevance of the pleiotropic characteristic of genes for issues of informed consent to genetic testing and the confidentiality of genetic information. The Task Force's recommendations, presented here, seek to promote the appropriate uses of clinical genetic testing and research while preventing potential harms.     

Certificates of confidentiality: a valuable tool for protecting genetic data.

Protecting the confidentiality of genetic research data is an important aspect of genetic research that has been discussed in various forums. Research data must be protected to prevent discrimination and its use in litigation. The certificate of confidentiality was created to protect the subjects of alcohol- and drug-abuse studies, who may be engaging in illegal activities. As revised in 1988, the certificate protects investigators engaging in other kinds of studies from being compelled to reveal information about subjects. Because the certificate protects information that could damage a subject's financial or social standing or employability, it is an appropriate tool to use to maintain the confidentiality of genetic data. The Department of Health and Human Services issues the certificates; the procedure for applying for a certificate of confidentiality is presented.     

Bioethics for clinicians: 8. Confidentiality

Physicians are obliged to keep information about their patients secret. The understanding that the physician will not disclose private information about the patient provides a foundation for trust in the therapeutic relationship. Respect for confidentiality is firmly established in codes of ethics and in law. It is sometimes necessary, however, for physicians to breach confidentiality. Physicians should familiarize themselves with legislation in their own province governing the disclosure of certain kinds of information without the patient''s authorization. Even when no specific legislation applies, the duty to warn sometimes overrides the duty to respect confidentiality. The physician should disclose only that information necessary to prevent harm, and should reveal this information only to those who need to know it in order to avert harm. Whenever possible any breach of confidentiality should be discussed with the patient beforehand.     

Insurance and genetic testing: where are we now?

Basic research will spur development of genetic tests that are capable of presymptomatic prediction of disease, disability, and premature death in presently asymptomatic individuals. Concerns have been expressed about potential harms related to the use of genetic test results, especially loss of confidentiality, eugenics, and discrimination. Existing laws and administrative policies may not be sufficient to assure that genetic information is used fairly. To provide factual information and conceptual principles upon which sound social policy can be based, the Human Genome Initiative established an Ethical, Legal, and Social Issues Program. Among the first areas to be identified as a priority for study was insurance. This paper provides a review of life, health, and disability insurance systems, including basic principles, risk classification, and market and regulatory issues, and examines the potential impact of genetic information on the insurance industry.     

Managing familial risk in genetic testing

Increasing numbers of people are seeking genetic testing and uncovering information that directly concerns their biological relatives as well as themselves. This familial quality of genetic information raises ethical quandaries for physicians, particularly related to their duty of confidentiality. In this article, the American Medical Association's Council on Ethical and Judicial Affairs examines the informed consent process in the specific context of genetic testing, giving particular consideration to the handling of information that has consequences for biological relatives. Furthermore, it addresses the question of whether physicians' obligation to warn biological relatives ever should override the obligation to protect patient confidentiality.     

A review of state legislation on DNA forensic data banking.

Recent advances in DNA identification technology are making their way into the criminal law. States across the country are enacting legislation to create repositories for the storage both of DNA samples collected from convicted offenders and of the DNA profiles derived from them. These data banks will be used to assist in the resolution of future crimes. This study surveys existing state statues, pending legislation, and administrative regulations that govern these DNA forensic data banks. We critically analyzed these laws with respect to their treatment of the collection, storage, analysis, retrieval, and use of DNA and DNA data. We found much variation among data-banking laws and conclude that, while DNA forensic data banking carries tremendous potential for law enforcement, many states, in their rush to create data banks, have paid little attention to issues of quality control, quality assurance, and privacy. In addition, the sweep of some laws is unnecessarily broad. Legislative modifications are needed in many states to better safeguard civil liberties and individual privacy.     

Laws restricting health insurers' use of genetic information: impact on genetic discrimination

Since 1991, 28 states have enacted laws that prohibit insurers' use of genetic information in pricing, issuing, or structuring health insurance. This article evaluates whether these laws reduce the extent of genetic discrimination by health insurers. From the data collected at multiple sites, we find that there are almost no well-documented cases of health insurers either asking for or using presymptomatic genetic test results in their underwriting decisions, either (a) before or after these laws have been enacted or (b) in states with or without these laws. By using both in-person interviews with insurers and a direct market test, we found that a person with a serious genetic condition who is presymptomatic faces little or no difficulty in obtaining health insurance. Furthermore, there are few indications that the degree of difficulty varies according to whether a state regulates the use of genetic information. Nevertheless, these laws have made it less likely that insurers will use genetic information in the future. Although insurers and agents are only vaguely aware of these laws, the laws have shaped industry norms and attitudes about the legitimacy of using this information.     

Confidentiality,ownership and transfer of medical records

The Canadian Medical Association (CMA) regards medical records as confidential documents, owned by the physician/institution/clinic that compiled them or had them compiled. Patients have a right to information contained in their records but not to the documents themselves. The first consideration of the physician is the well-being of the patient, and discretion must be used when conveying information contained in a medical record to a patient. This medical information often requires interpretation by a physician or other health care professional. Other disclosures of information contained in medical records to third parties (eg. physician-to-physician transfer, lawyer, insurance adjuster) require written patient consent or a court order. The CMA is opposed to legislation at any level which threatens the confidentiality of medical records.     

Confidentiality,ownership and transfer of medical records (update)

The Canadian Medical Association (CMA) regards medical records as confidential documents, owned by the physician/institution/clinic that compiled them or had them compiled. Patients have a right to medical information contained in their records but not to the documents themselves. The first consideration of the physician is the well-being of the patient, and discretion must be used when conveying information contained in a medical record to a patient. This medical information often requires interpretation by a physician or other health care professional. Other disclosures of information contained in medical records to third parties (eg. physician-to-physician transfer for administrative purposes, lawyer, insurance adjuster) require written patient consent or a court order. CMA is opposed to legislation at any level which threatens the confidentiality of medical records.     

Use of genetic data, employment and insurance: an international perspective

In this paper, I will say first of all a few words on what is novel in the potential exclusionary use of genetic information in the domains of work or insurance and to what extent legal protection specifically relating to genetic discrimination may be justified. Subsequently, I will briefly examine some of the proposed restrictions on the collection of genetic information for purposes of selection and the scope for international consensus on the issue; in doing so, I will deal separately with employment and private insurance. Finally, I will raise the question whether these issues require international handling and which international steps could be envisaged.     

Legal and ethical aspects of new wildlife food sources

The production of animals for new sources of food may be affected by a variety of laws relating to the keeping, trading, health, welfare and movement of animals. Other legislation, such as that applicable to wildlife and to human safety, are also relevant. Religious, cultural and ethical considerations may also influence attitudes towards a new food product. It is important that these factors are taken into account during the planning and progress of an enterprise since they may have a substantial impact on its viability.     

From Hippocrates to facsimile: Protecting patient confidentiality is more difficult and more important than ever before

Although patient confidentiality has been a fundamental ethical principle since the Hippocratic Oath, it is under increasing threat. The main area of confidentiality is patient records. Physicians must be able to store and dispose of medical records securely. Patients should be asked whether some information should be kept out of the record or withheld if information is released. Patient identity should be kept secret during peer review of medical records. Provincial legislation outlines circumstances in which confidential information must be divulged. Because of the "team approach" to care, hospital records may be seen by many health care and administrative personnel. All hospital workers must respect confidentiality, especially when giving out information about patients by telephone or to the media. Research based on medical-record review also creates challenges for confidentiality. Electronic technology and communications are potential major sources of breaches of confidentiality. Computer records must be carefully protected from casual browsing or from unauthorized access. Fax machines and cordless and cellular telephones can allow unauthorized people to see or overhear confidential information. Confidentiality is also a concern in clinical settings, including physicians'' offices and hospitals. Conversations among hospital personnel in elevators or public cafeterias can result in breaches of confidentiality. Patient confidentiality is a right that must be safeguarded by all health care personnel.     

Use of a viewdata system to collect data from a multicentre clinical trial in anaesthesia.

The interactive electronic information storage and transmission system PRESTEL was assessed as a method of recording and collecting patient record forms from a multicentre trial in anaesthesia. PRESTEL terminals were provided in anaesthetic centres around Britain and all data handled by this public viewdata service, which connects users by telephone to a central computer. The trial was of a new analgesic supplement, alfentanil, and confirmed more rapid recovery of patients as compared with that after traditional anaesthesia with halothane. Advantages of the system were manifold and included reducing the need for the trial monitor to visit the trialist, an electronic "mailbox," confidentiality, and the ability immediately to identify violations of study protocol. No participant found the system too difficult to use, though the small keyboard was a source of complaint. Despite the initial cost of the system its utility vastly outweighs traditional methods of data collection.     

New Approach to Information Handling in General Practice

In this paper we describe the use of punched feature cards in a general practice for 18 months. Its advantages are the low cost, speed of information retrieval, visible statistics, computer compatibility, accuracy, confidentiality, flexibility, and simplicity of setting up and collection of information. The system encourages the doctor to ask questions about his practice, and could readily be adopted in other practices.     

Integration of DNA sample collection into a multi-site birth defects case-control study

BACKGROUND: Advances in quantitative analysis and molecular genotyping have provided unprecedented opportunities to add biological sampling and genetic information to epidemiologic studies. The purpose of this article is to describe the incorporation of DNA sample collection into the National Birth Defects Prevention Study (NBDPS), an ongoing case-control study in an eight-state consortium with a primary goal to identify risk factors for birth defects. METHODS: Babies with birth defects are identified through birth defects surveillance systems in the eight participating centers. Cases are infants with one or more of over 30 major birth defects. Controls are infants without defects from the same geographic area. Epidemiologic information is collected through an hour-long interview with mothers of both cases and controls. We added the collection of buccal cytobrush DNA samples for case-infants, control-infants, and their parents to this study. RESULTS: We describe here the methods by which the samples have been collected and processed, establishment of a centralized resource for DNA banking, and quality control, database management, access, informed consent, and confidentiality issues. CONCLUSIONS: Biological sampling and genetic analyses are important components to epidemiologic studies of birth defects aimed at identifying risk factors. The DNA specimens collected in this study can be used for detection of mutations, study of polymorphic variants that confer differential susceptibility to teratogens, and examination of interactions among genetic risk factors. Information on the methods used and issues faced by the NBDPS may be of value to others considering the addition of DNA sampling to epidemiologic studies.     

The adequacy of informed consent forms in genetic research in Oman: a pilot study

Genetic research presents ethical challenges to the achievement of valid informed consent, especially in developing countries with areas of low literacy. During the last several years, a number of genetic research proposals involving Omani nationals were submitted to the Department of Research and Studies, Ministry of Health, Oman. The objective of this paper is to report on the results of an internal quality assurance initiative to determine the extent of the information being provided in genetic research informed consent forms. In order to achieve this, we developed checklists to assess the inclusion of basic elements of informed consent as well as elements related to the collection and future storage of biological samples. Three of the authors independently evaluated and reached consensus on seven informed consent forms that were available for review. Of the seven consent forms, four had less than half of the basic elements of informed consent. None contained any information regarding whether genetic information relevant to health would be disclosed, whether participants may share in commercial products, the extent of confidentiality protections, and the inclusion of additional consent forms for future storage and use of tissue samples. Information regarding genetic risks and withdrawal of samples were rarely mentioned (1/7), whereas limits on future use of samples were mentioned in 3 of 7 consent forms. Ultimately, consent forms are not likely to address key issues regarding genetic research that have been recommended by research ethics guidelines. We recommend enhanced educational efforts to increase awareness, on the part of researchers, of information that should be included in consent forms.     

Genetic relatedness among dioecious Ficus carica L. cultivars by random amplified polymorphic DNA analysis,and evaluation of agronomic and morphological characters

A collection of 64 fig (Ficus carica L.) accessions was characterized through the use of RAPD markers, and results were evaluated in conjunction with morphological and agronomical characters, in order to determine the genetic relatedness of genotypes with diverse geographic origin. The results indicate that fig cultivars have a rather narrow genetic base. Nevertheless, RAPD markers could detect enough polymorphism to differentiate even closely related genotypes (i.e., clones of the same cultivar) and a unique fingerprint for each of the genotypes studied was obtained. No wasteful duplications were found in the collection. Cluster analysis allowed the identification of groups in accordance with geographic origin, phenotypic data and pedigree. Taking into account the limited information concerning fig cultivar development, the results of this study, which provide information on the genetic relationships of genetically distinct material, dramatically increase the fundamental and practical value of the collection and represent an invaluable tool for fig germplasm management.     

Why conservationists should be concerned about natural resource legislation affecting indigenous peoples’ rights: lessons from Peninsular Malaysia

For conservation to be effective in forests with indigenous peoples, there needs to be greater recognition of indigenous customary rights, particularly with regards to their use of natural resources. Ideally, legislation regulating the use of natural resources should include provisions for the needs of both indigenous peoples and biodiversity. In reality, however, legislative weaknesses often exist and these can result in negative impacts, either on indigenous peoples’ livelihoods, their surrounding biodiversity, or both. Here, our case study demonstrates why conservationists need to pay greater attention to natural resource legislation affecting indigenous peoples’ rights. Apart from examining relevant laws for ambiguities that may negatively affect biodiversity and livelihoods of indigenous people in Peninsular Malaysia (known as the Orang Asli), we also provide supporting information on actual resource use based on questionnaire surveys. In order to address these ambiguities, we propose possible legislative reconciliation to encourage policy reform. Although there are positive examples of conservationists elsewhere adopting a more inclusive and participatory approach by considering the needs of indigenous peoples, greater recognition must be afforded to land and indigenous rights within natural resource laws for the benefit of indigenous peoples and biodiversity.     

Confidentiality for mental health concerns in adolescent primary care

Guidelines from several national professional groups and a patchwork of state laws support the option to provide confidential mental healthcare for adolescents as a way to reduce barriers to treatment. These guidelines do not, however, help doctors decide when and to what extent confidentiality might be appropriate. We propose a set of practical considerations that clinicians can use to develop and justify confidentiality and family involvement in individual cases. Use of this framework may increase clinician comfort in discussing confidentiality and mental health topics with adolescents, and thus reduce barriers to the management of mental health problems in adolescent primary care.     

Professional and personal attitudes about access and confidentiality in the genetic testing of children: a pilot study

The ability to perform predictive genetic testing of children raises ethical concerns regarding whether and when to test and the disclosure of results. Semi-structured interviews with a convenience sample of pediatricians (12) and geneticists (13) were conducted to see how they would react to parental requests for predictive genetic testing of their children, and their attitudes about testing their own children. We also asked about disclosure attitudes and practices for their patients' relatives and within their own families. Respondents would provide predictive genetic testing for most conditions, yet were less likely to seek this information about their own children. Respondents believed it was very important for patients to share some types of genetic information with relatives, and were directive in their counseling about intrafamilial disclosure, especially within their own families. Although respondents would almost never breach patient confidentiality, many would breach confidentiality within their own families. Health care professionals distinguish between their professional and personal roles with regard to issues of access and confidentiality in predictive testing of children. They are willing to provide greater access and more confidentiality for their patients than within their own families.