Genetic Information Nondiscrimination Act Research Articles

Knowledge of the Genetic Information Nondiscrimination act among individuals affected by Huntington disease

The Genetic Information Nondiscrimination Act (GINA) of 2008 was the first US legislation to address genetic discrimination. We sought to assess understanding of GINA among individuals affected by the autosomal dominant condition, Huntington disease (HD). We conducted a cross-sectional survey of individuals with varying risk of HD to assess their familiarity with GINA. As a control, individuals were surveyed about their familiarity with the Health Insurance Portability and Accountability Act (HIPAA). Those who reported familiarity with GINA were asked about their knowledge of specific provisions of the legislation. The survey was offered to 776 participants and completed by 410 (response rate 53%). Respondents across all groups were less familiar with GINA (41% slightly, somewhat, or very familiar) than with HIPAA (65%; p < 0.0001). Of individuals with or at risk for HD who reported some familiarity with GINA, less than half correctly identified GINA's protections, and less than 15% correctly identified its limitations. Thus, among individuals affected by HD, familiarity with and knowledge of GINA are low. The effectiveness of the legislation may be limited by this lack of knowledge.

A Preliminary Study of Employees’ Views of Genetic Research: Perceived Harm, Risk, and Willingness to Participate

Background: Genetic innovation may bring benefits to workplaces, including the development of new genetic tests to help employers better protect workers’ health. Collecting employees’ genetic information may nevertheless have adverse consequences, including the potential for unintended secondary results or misuse of results. Thus, employees’ views regarding benefits and risks of participating in genetic testing for research purposes is important. Although the 2008 Genetic Information Nondiscrimination Act (GINA) has reduced risks for negative repercussions of participating in genetic research, it has not eliminated risks completely; thus, exploring attitudes regarding these issues continues to be relevant. Methods: Sixty-three healthy working adults in a health sciences center and federal scientific research laboratory participated in a written survey and structured interview. This article analyzes aspects of workers’ views toward participation in genetic research and their likelihood of participation in various research-related procedures and studies that have potentially negative employment consequences. Results: Participants reported that they were likely to volunteer for each of six research procedures, but the two procedures that involved genetic testing were ranked lowest in terms of their willingness to participate. Respondents perceived the potential harm of all six procedures as lower than “usual” risks encountered in daily life. Employees did not express willingness to participate in health research they believed would lead to various negative consequences for their work status. Conclusions: Respondents were receptive to volunteering for research involving genetic testing. Respondents endorsed concerns related to socioeconomic and employment consequences. Future research on these issues should include replication with a larger, more diverse sample; examination of workers’ knowledge of genetics; and a wider range of concerns associated with genetic research participation.

The Genetic Information Nondiscrimination Act (GINA): public policy and medical practice in the age of personalized medicine.

Survey data suggest that many people fear genetic discrimination by health insurers or employers. In fact, such discrimination has not yet been a significant problem. This article examines the fear and reality of genetic discrimination in the United States, describes how Congress sought to prohibit such discrimination by passing the Genetic Information Nondiscrimination Act of 2008 (GINA), and explores the implications of GINA for general internists and their institutions. It concludes that medical providers and health care institutions must be familiar with the general intent and specific terms of GINA, and should continue to collect genetic information that can contribute to the high quality provision of medical treatment. Not doing so violates their medical mission and diminishes the quality of care patients deserve.

Family Physicians’ Awareness and Knowledge of the Genetic Information Non‐Discrimination Act (GINA)

Historically, physicians have expressed concern about their patients' risk of genetic discrimination, which has acted as a barrier to uptake of genetic services. The Genetic Information Nondiscrimination Act of 2008 (GINA) is intended to protect patients against employer and health insurance discrimination. Physicians' awareness and knowledge of GINA has yet to be evaluated. In 2009, we mailed surveys to 1500 randomly selected members of the American Academy of Family Physicians. Questions measured physicians' current knowledge of GINA and their level of concern for genetic discrimination. In total, 401 physicians completed the survey (response rate 26.9%). Approximately half (54.5%) of physicians had no awareness of GINA. Of physicians who reported basic knowledge of GINA, the majority were aware of the protections offered for group health insurance (92.7%), private health insurance (82.9%), and employment (70.7%). Fewer physicians were aware of GINA's limitations regarding life insurance (53.7%) and long-term care insurance (58.8%). Physicians demonstrated highest levels of concern for health insurance, life insurance, and long-term care insurance discrimination, with less concern for employer and family/social discrimination. Level of concern for the risk of genetic discrimination did not correlate significantly with awareness of GINA. Approximately 17months after GINA was signed into federal law, physicians' knowledge remained limited regarding the existence of this legislation and relevant details. Physicians who are aware of GINA continue to have significant concerns regarding the risk of genetic discrimination. This study reveals the need to further educate physicians about the existence of GINA and the protections offered.

Genetics of schizophrenia: communicating scientific findings in the clinical setting

The expected identification of susceptibility genes for psychiatric disorders may bring new opportunities and expectations from patients and families for the clinical translation of research findings in psychiatric genetics. In this article information is provided about familial risk of schizophrenia with the theory behind individualizing risk of recurrence highlighted. Recent new findings regarding the new genetic frontier, Copy Number Variations (CNV), are summarized and the genetic architecture of familial and sporadic schizophrenia applicable to the clinical situation is reviewed. A scenario in which genetic testing could be applied in velocardiofacial syndrome (VCFS) type schizophrenia is debated. Referring to genetic discrimination in mental disorders, reference is made to the implementation of the Federal Genetic Information non-discrimination Act (GINA) of 2008 in the USA and the Mental Health Care Act of 2002 in SA.

Media Coverage of Direct‐to‐Consumer Genetic Testing

Media coverage of Direct-to-Consumer (DTC) genetic testing shapes public perception of such testing. The purpose of this study was to determine and assess the themes presented by U.S. news media regarding DTC genetic testing. We performed a Lexis-Nexis search with the keywords "Direct-to-Consumer" and "genetic test" for news stories published from 2006-2009. The sample was coded on themes of genetic determinism, privacy, discrimination, validity, regulation, the Genetic Information Nondiscrimination Act (GINA), utility, and cost. Ninety-two news stories were included. Stories displayed moderate genetic determinism and were neutral about validity and utility. Stories indicated that insurance and employers were the most likely sources of discrimination, yet identified the physicians and DTC companies as groups most likely to violate privacy. Stories claimed lack of regulation would harm consumers, but most post-GINA stories did not discuss the law. The costs of tests were frequently included. The results of this study show a broad range of views toward DTC genetic testing and its potential impacts. The genetics community should be aware that the public has been exposed to multiple views of DTC genetic testing when discussing these tests.

Presymptomatic and Early Symptomatic Genetic Testing

This article presents a hypothetical case of a boy with early symptoms of Becker muscular dystrophy whose family wishes to defer genetic testing because of concerns about genetic discrimination. The possibility of genetic discrimination in this case is discussed, especially in the context of the Genetic Information Nondiscrimination Act (GINA) that took effect in 2009. GINA protects individuals who are asymptomatic, not those who have "manifested disease." The patient under discussion has symptoms, albeit subtle, of Becker muscular dystrophy, and thus would be regarded by most observers as having "manifested disease." Thus, there appears to be no disadvantage for a patient under these circumstances to have genetic testing, and the neurologist should advise such patients to have confirmatory genetic testing performed.

Self Diagnosis of Lynch Syndrome Using Direct to Consumer Genetic Testing: A Case Study

We are reporting what we believe to be the first published case of patient initiated direct to consumer (DTC) genetic testing to test for the presence of a known familial mutation. Our client in this case is from a known MSH2 family; both his/her parent and associated grandparent have previously tested positive for the known familial MSH2 mutation. Using 23andme's "family inheritance genome-wide comparison" option we were able to determine that our client most likely inherited the known familial MSH2 mutation without pursuing single site genetic testing. Our client pursued DTC genetic testing instead of single site genetic testing due to the fear of genetic discrimination. This case shows that patients are still fearful of genetic discrimination, despite the passage of the Genetic Information Nondiscrimination Act (GINA), and that DTC genetic testing may be useful despite the overall negative feeling towards this type of testing in the genetic counseling community.

Physicians’ Views on Targeted Alpha-1 Antitrypsin Testing by Respiratory Therapists in PFT Labs and Their Awareness of Protections Offered by the Genetic Information Nondiscrimination Act (GINA)

Physicians’ Views on Targeted Alpha-1 Antitrypsin Testing by Respiratory Therapists in PFT Labs and Their Awareness of Protections Offered by the Genetic Information Nondiscrimination Act (GINA)

Exclusion of Genetic Information From the Medical Record

Increasingly, physicians and patients face dilemmas of whether to exclude genetic information from medical charts, posing critical challenges for practice, research, policy, and education. Physicians and patients are obtaining more genetic information, yet medical records are rapidly becoming electronic, threatening confidentiality. Tensions thus arise between potential medical benefits vs social risks of including information. Use of genetic testing is rapidly increasing through clinicians and direct-to-consumer marketing. Direct-to-consumer tests may be definitive or show only slightly increased disease probabilities, but with advances may have increasing clinical utility. Several institutions have also discussed including whole genome data in medical records. Genetic discrimination has occurred with α1-antitrypsin deficiency, Huntington disease, and other mutations,1 although the extent remains unclear,2 partly because such discrimination can be subtle or difficult to prove. Patients may be passed over for promotion or marginalized, but not fired.3 The Health Insurance Portability and Accountability Act (HIPAA) protects medical information in certain contexts and the 2008 Genetic Information Nondiscrimination Act (GINA) protects genetic test results in the absence of symptoms, but these laws do not prevent discrimination in many realms (eg, life, disability, or long-term care insurance). Many patient advocates are concerned that under GINA, discriminating against patients and paying fines may cost companies less than covering them—as racial, sex, and age discrimination continue, despite legislation. Federal health care reforms of 2010 should broaden coverage of preexisting conditions but have yet to be implemented, and advocates are concerned that reforms might simply raise premiums.

The 7th Leonard Berg Symposium, Part 2

At the 7th Leonard Berg Symposium, scientists and patient advocates came together to exchange the latest news on detecting disease presymptomatically and to compare what’s known in rare genetic and in common forms of the disease. There was a palpable sense of excitement in the auditorium that, overall, enough lines of evidence are coming together to make preclinical detection possible in practice. Paradoxically, perhaps, this optimism arose alongside a general acknowledgment that autosomal-dominant AD is surprisingly heterogeneous, and that its status as a faithful model for the much larger population of general late-onset AD is far from cut and dried. Here are some highlights. Ira Shoulson is a leading neuro-geneticist and clinician for Huntington disease (HD) at the University of Rochester School of Medicine and Dentistry, New York. He led the conference with a keynote on what the HD experience can teach the AD field. In HD, predictive genetic testing has been possible since 1983; hence, scientists in this community have had more time than their colleagues in AD to study the acceptance and psychological effects of such testing, as well as the characteristics of the presymptomatic period of carriers. Even so, research into preclinical HD is arguably less advanced, partly because fewer large-scale studies exist to observe how the natural history of HD unfolds. In AD, early-stage diagnosis is becoming routine, at least at some academic tertiary care centers. There, clinicians try to implement biomarker-enhanced diagnoses of “prodromal” AD [1] or similarly early stages called by a different name (WashU clinicians would call it incipient or very early AD), and the amnestic subtype of the MCI clinical categorization system appears largely to capture the same group of people. Increasingly, specialized centers will diagnose people who do not meet criteria for dementia if they have a mild memory complaint and a pathological CSF or brain scan. The rallying call in AD now is to move the diagnosis back even further, before the first symptoms appear. In contrast, the diagnosis of HD in the past 20 years has moved back only a year or two as clinicians have become more astute at recognizing early clinical signs, Shoulson said, but it is still an entirely clinical diagnosis made much later than he would wish. In HD, people on average live 40 years of their lives at risk and 20 more years with the illness, though age of onset varies. For each person with HD, five are living at risk for the disease, but no robust biomarker signatures are in place to identify “silent” disease in these people. Scientists do know that certain abnormalities, such as cortical thinning, predate symptomatic HD, as do certain cognitive impairments, but in practice this has not translated into presymptomatic diagnosis and prevention research. To gather more powerful data on the HD preclinical phase, researchers collaborated to launch PHAROS, an observational study that to date has followed nearly 1,000 at-risk, presymptomatic people for five years. One-third of them have the extended glutamine repeat and will develop HD. “We asked people if they would come back every nine months for evaluation. We would not share with them what we found, and we wanted their blood and put it in a database. This was very daunting, particularly securing confidentiality and privacy. It was, in part, what led to the passage of Genetic Information Nondiscrimination Act (GINA),” Shoulson told the audience. PHAROS appears to have been worth the effort. Its initial data show that all motor and cognitive domains

The Genetic Information Nondiscrimination Act 2008: What clinicians should understand

To explain the Genetic Information Nondiscrimination Act (GINA), what it covers, and what it does not cover to aid primary care practitioners in advising their patients. Governmental agencies, congressional records, and various nongovernmental agencies, press releases, and journal articles. The GINA will protect patients from employment and insurance information in multiple ways. However, loopholes exist which will need to be addressed at the next review of the Act in 6 years. In order to provide accurate information regarding genetic testing, clinicians need to be familiar with key factors about GINA regarding law, practice, impact on patients and their rights in terms of genetic testing.

Prognosis Negative? GINA’s Interim Incentives Ruling a Concern for Wellness Programs

The Genetic Information Nondiscrimination Act (GINA) was enacted to assure individuals covered by group health plans that their genetic information would not be used for underwriting and other improper purposes. Although there is appropriate support for GINA in the benefits community, it appears that interim regulations issued by the federal government extend well beyond GINA’s statutory provisions and original intent. In particular, there is concern from some wellness advocates that GINA regulations will prevent health coaches and wellness program professionals from obtaining family medical history information. Family medical history information is critically important to disease prevention, and by preventing access to this information, the concern among many in the benefits community is that the rules may do more harm than good.

Healing health care

Healing health care

How Will GINA Influence Participation in Pharmacogenomics Research and Clinical Testing?

After a 13-year battle in Congress--longer than it took to map the human genome--the Genetic Information Nondiscrimination Act (GINA) was passed into law on 21 May 2008. Before its passing, Francis Collins, then director of the National Human Genome Research Institute, testified before the 110th Congress that the success of personalized medicine hinged on the passing of the legislation. How will GINA, which takes effect in 2009, influence participation in pharmacogenomic research and clinical testing?

Registry of Genetic Tests: A Critical Stepping Stone to Improving the Genetic Testing System

Registry of Genetic Tests: A Critical Stepping Stone to Improving the Genetic Testing System

GINA, GENISM, AND CIVIL RIGHTS

Culminating its 13-year legislative gestation, The Genetic Information Nondiscrimination Act (GINA), was signed by President George W. Bush on May 21, 2008. GINA is the first major federal law to come out of the Ethical, Legal and Social Implications (ELSI) portion of the Human Genome Project. The passage of GINA has been widely celebrated. For the genetic research community, the act was sought to encourage people to become research subjects by providing them with some assurance that genetic research results would not be used against them by health insurance companies or employers. For Francis Collins, the project's leader, the long gestation period was a ‘silver lining’ in that it provided many opportunities ‘to educate policymakers about the potential of genomic medicine and the challenges that must be addressed if we are to realize that potential’.1

The Genetic Information Nondiscrimination Act — A Half-Step toward Risk Sharing

Consider three Americans — one with an increased genetic risk for colon cancer, one with a family history of colon cancer, and one with a colonoscopic finding of several large adenomatous polyps. Under the Genetic Information Nondiscrimination Act (GINA), which was recently signed into law by President George W. Bush, health insurance companies may not refuse to cover and may not raise premiums for the first two people, whose genetic information or family history puts them at higher risk for colon cancer.1 Insurers could, however, refuse to sell the third person an individual policy or could quadruple his or her . . .

GINA: making it safe to know what’s in your genes

GINA: making it safe to know what’s in your genes

New law bans genetic discrimination

On May 21, President Bush signed into law the Genetic Information Non-Discrimination Act (GINA). The new law bars employers and insurance companies from discrimination based on someone’s genetic risk for a disease. “It protects our citizens from having genetic information misused,” Bush said