Genetic Discrimination: The Genetic Information Nondiscrimination Act's Impact on Practice and Research.

The Genetic Information Nondiscrimination Act of 2008 (GINA) provides federal safeguards to prohibit employer or insurance discrimination based on personal or familial genetic information or conditions. Awareness of the implications of genetic testing in individuals and families and of state and federal legislation in place for their protection is an essential component of oncology nursing practice. This article discusses the critical role of the oncology nurse in interacting with and providing information about GINA to patients in a cancer care setting engaged in genetic assessment.

Genomic Privacy.

BACKGROUND: Genetic information is unique among all laboratory data because it not only informs the current health of the specific person tested but may also be predictive of the future health of the individual and, to varying degrees, all biological relatives. CONTENT: As DNA sequencing has become ubiquitous with decreasing cost, large repositories of genomic data have emerged from the domains of research, healthcare, law enforcement, international security, and recreational consumer interest (i.e., genealogy). Broadly shared genomic data are believed to be a key element for future discoveries in human disease. For example, the National Cancer Institute's Genomic Data Commons is designed to promote cancer research discoveries by providing free access to the genome data sets of 12000 cancer patients. However, in parallel with the promise of curing diseases, genomic data also have the potential for harm. Genomic data that are deidentified by standard healthcare practices (e.g., removal of name, date of birth) can be reidentified by methods that combine genomic software with publicly available demographic databases (e.g., phone book). Recent law enforcement cases (i.e., Bear Brook Murders, Golden State Killer) in the US have demonstrated the power of combining DNA profiles with genealogy databases. SUMMARY: We examine the current environment of genomic privacy and confidentiality in the US and describe current and future risks to genomic privacy. Reidentification and inference of genetic information of biological relatives will become more important as larger databases of clinical, criminal, and recreational genomic information are developed over the next decade.

[Current medicolegal and ethical issues in pathology]. / Aktuelle medizinrechtliche und -ethische Herausforderungen der Pathologie.

The increase in density of information available in relation to patients and research participants, in particular in the context of genetic diagnostics and analysis, results in an increased potential for uncovering details which were unexpected but are of particular significance for the patient. Deciding how this information is dealt with and who is entitled to receive this information, is a medicolegal and ethical balancing act. Incidental findings and the challenges posed by the advent of personalised medicine are but two areas which increasingly impact medical disciplines that do not conventionally work directly with patients. Both areas raise questions of what is legally required and morally necessary. The authors briefly sketch these two areas and the medicolegal and ethical implications for diagnostics and research in pathology.

Privacy protection in whole-genome sequencing.

A report from the Presidential Commission for the Study of Bioethical Issues offers several recommendations to help protect the privacy of patients who have whole-genome sequencing.

Biobancos, dados genéticos e proteção jurídico-penal da intimidade / Biobanks, genetic data and legal and criminal protection of privacy

O artigo trata da questão dos biobancos para pesquisa e dos aspectos jurídicos relacionados à proteção de dados genéticos dos sujeitos de pesquisa. Mais especificamente, além da definição de biobancos e dados genéticos, analisa-se os dados genéticos e testes genéticos e a relação médico-sujeito de pesquisa, bem como a proteção criminal da intimidade genética, sugerindo-se a criação de uma lei que regulamente a coleta, o acesso, a utilização e o armazenamento dos dados genéticos a fim de prevenir testes genéticos para fins médicos arbitrários (AU)

The article deals with the issue of biobanks for research and legal aspects related to the protection of genetic data of study subjects. More specifically, besides the definition of biobanks and genetic data, we analyze genetic data and genetic testing and the physician-subject relationship in research, as well as criminal protection of genetic privacy, suggesting the creation of a law that regulates the collection, access, use and storage of genetic data to prevent genetic testing for arbitrary medical purposes (AU)

Consumer awareness and attitudes about insurance discrimination post enactment of the Genetic Information Nondiscrimination Act.

To examine the awareness and attitudes about the Genetic Information Nondiscrimination Act in individuals who made contact with a Hereditary Breast and Ovarian Cancer Syndrome advocacy group. This is a descriptive study of individuals (n = 1,699) who were invited via email and advertisements to complete an online questionnaire available from August 2009 through December 2010. Response distributions of relevant subgroups were compared using cross tabulation and Chi-squared tests were used. The majority of respondents (69.2 %) had undergone genetic testing (n = 1,156) and 30.2 % had not. Of those who did not undergo genetic testing, the most common reason given for declining testing was cost (28.8 %), followed by concerns about insurance discrimination (19.5 %). More than half (60.5 %) were worried about health insurance discrimination when they first considered genetic testing and 28.6 % were worried about employment discrimination. Slightly more individuals were worried about health insurance discrimination if they had no prior knowledge of GINA. While "cost" was cited most frequently as the reason not to test, "fear of insurance discrimination" was the second most common reason. Knowledge of GINA among consumers is still limited and public education may help promote reduction in fear.

Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil.

The finished version of the human genome sequence was completed in 2003, and this event initiated a revolution in medical practice, which is usually referred to as the age of genomic or personalized medicine. Genomic medicine aims to be predictive, personalized, preventive, and also participative (4Ps). It offers a new approach to several pathological conditions, although its impact so far has been more evident in mendelian diseases. This article briefly reviews the potential advantages of this approach, and also some issues that may arise in the attempt to apply the accumulated knowledge from genomic medicine to clinical practice in emerging countries. The advantages of applying genomic medicine into clinical practice are obvious, enabling prediction, prevention, and early diagnosis and treatment of several genetic disorders. However, there are also some issues, such as those related to: (a) the need for approval of a law equivalent to the Genetic Information Nondiscrimination Act, which was approved in 2008 in the USA; (b) the need for private and public funding for genetics and genomics; (c) the need for development of innovative healthcare systems that may substantially cut costs (e.g. costs of periodic medical followup); (d) the need for new graduate and postgraduate curricula in which genomic medicine is emphasized; and (e) the need to adequately inform the population and possible consumers of genetic testing, with reference to the basic aspects of genomic medicine.

Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil

The finished version of the human genome sequence was completed in 2003, and this event initiated a revolution in medical practice, which is usually referred to as the age of genomic or personalized medicine. Genomic medicine aims to be predictive, personalized, preventive, and also participative (4Ps). It offers a new approach to several pathological conditions, although its impact so far has been more evident in mendelian diseases. This article briefly reviews the potential advantages of this approach, and also some issues that may arise in the attempt to apply the accumulated knowledge from genomic medicine to clinical practice in emerging countries. The advantages of applying genomic medicine into clinical practice are obvious, enabling prediction, prevention, and early diagnosis and treatment of several genetic disorders. However, there are also some issues, such as those related to: (a) the need for approval of a law equivalent to the Genetic Information Nondiscrimination Act, which was approved in 2008 in the USA; (b) the need for private and public funding for genetics and genomics; (c) the need for development of innovative healthcare systems that may substantially cut costs (e.g. costs of periodic medical followup); (d) the need for new graduate and postgraduate curricula in which genomic medicine is emphasized; and (e) the need to adequately inform the population and possible consumers of genetic testing, with reference to the basic aspects of genomic medicine.

The need to be aware and beware of the genetic information nondiscrimination act.

Genetic advancements have presented numerous discrimination predicaments to individuals, the healthcare community, and legislators at state and federal levels. Oncology nurses should be knowledgeable about the Genetic Information Nondiscrimination Act of 2008 (GINA) and its applications to clinical practice. GINA is the first federal law passed to protect U.S. citizens with inherited disorders from being treated unfairly because of their genetic makeup. Understanding the legislation known as GINA, including how it modifies existing federal laws governing health insurance coverage and employment discrimination, can assist oncology nurses in providing important education and advocating for patients and their extended families. Federal agencies that govern and enforce GINA's provisions are identified. Case situations are included to demonstrate how to apply information concerning GINA to patients with cancer and their families who are considering or have already completed genetic testing. Privacy of genetic information is a timely issue but difficult to understand; therefore, provisions of GINA should be addressed and evaluated carefully.

Genetic information and discrimination: a policy analysis.

Because of the Human Genome Project, nurses increasingly must understand how genetics impact health and treatment decisions. Although the sequencing of the human genome was crucial, the next step is advancing the understanding of genomics, interpreting genetic information, and using that information to improve health care, particularly for patients with cancer. Oncology nurses are in a position to educate and provide appropriate counseling to patients unsure about genetic testing.