Table 1:

Studies on awareness of the law and fear of genetic discrimination post-GINA

Article	Participant Population	Number of Respondents	Key Statistics	Overall Findings
Healthcare Provider Perspectives
Impact of GINA on Physician Referrals for Genetic Testing for Cancer Predisposition Fusina (2009) 22	Physicians representing various practice areas (2474 emails reached their intended recipient)	56 physicians completed the survey: 17 primary care, 5 oncology, 6 gynecology, 2 surgery, and 28 other specialties	57.1% of respondents were unaware of GINA. 17.9% of respondents agreed or strongly agreed that there were concerns of employment discrimination, compared to 23.2% about concern of health insurance discrimination.	Concerns about genetic discrimination remain despite the passage of GINA. This represents an opportunity for raising awareness of these issues and the new federal protections.
Evolving Perspectives on Genetic Discrimination in Health Insurance Among Health Care Providers Huizenga et al (2010) 23 *Data collected prior to GINA’s passage	Primarily genetic counselors	153 qualified respondents. Not all respondents answered every item	36% of cancer genetics professionals agreed that patients are likely to decline testing because of fear of health insurance discrimination. The majority disagreed that genetic testing creates health insurance problems for patients with or without cancer (93 and 79% respectively). A significantly greater proportion (57%) of non-genetics clinicians thought that genetic testing causes health insurance problems for patients. High levels of respondents thought the risk of genetic discrimination was low or theoretical. (94%).	“As barometers of change, cancer genetics professionals show a migration in opinion over the past 8 years, with decreased fear of GD and greater knowledge of laws prohibiting GD compared to non-genetics clinicians. Better knowledge of GD and protective legislation, may facilitate non-genetics clinician utilization of genetics and personalized medicine.”
GINA and Its Affect [sic] on Genetic Counseling Practice: A Survey of Genetic Counselors Pamarti (2011) 15	Genetic counselors recruited from the National Society of Genetic Counselors (NSGC) and Cancer SIG listservs	Completed by 257 respondents.	Cancer genetic counselors discuss GINA with more clients (68%) than genetic counselors working in pediatric (28%), prenatal (11%) or other specialties (39%). Overall, 56% of respondents correctly answered questions about the general provisions of GINA. 99.3% correctly answered that GINA offers protections in health insurance, but were less likely to answer correctly about DTC testing and genetic conditions.	“Genetic counselors are knowledgeable about the major protections offered by GINA. However, there is still confusion about its protections for individuals pursuing direct-to-consumer testing and limitation regarding pre-existing genetic conditions”
Family Physicians’ Awareness and Knowledge of the Genetic Information Non-Discrimination Act (GINA) Laedtke et al (2012) 13	Members of the American Academy of Physicians reporting direct patient care	1,500 contacted; 401 participated (26.9 response rate) 67.2% male; 96.2% primary care/family medicine physicians; 70.4% reported 15+ years in medical practice	54.5% of respondents had no awareness of GINA; 35.2% were aware of GINA, but didn’t know the specific protections provided; 10.3% were aware of GINA and claimed a basic understanding. Fewer physicians were aware of GINA’s limitations regarding life insurance (53.7%) and long-term care insurance (58.8%). Notably, the level of concern for the risk of genetic discrimination did not correlate significantly with awareness of GINA.	Physician knowledge of GINA was still low 17 months since GINA was enacted; those aware of GINA still cited significant concerns for genetic discrimination. The study concluded that physicians need to be more educated on GINA and the protection it affords consumers.
Changes in Specialists’ Perspectives on Cancer Genetic Testing, Prophylactic Surgery and Insurance Discrimination: Then and Now Matloff (2014) 24	Genetic counselors Half of 2012 responders reported working in a hospital setting, 35.6% at a University Medical Center and 25.5% at a Public Hospital	216 respondents completed the survey.	94.9% of respondents in 2012 would submit the charges for genetic testing to an insurance company and 3.2% would use an alias during testing. In 1998 only 26% would bill insurance and 27% would use an alias. In 2012, reason for billing insurance were confidence in legislation to protect against discrimination (80.1%) and wanting prophylactic surgery later (81.5%).	Over the past 14 years there has been a major change in perspective amongst cancer genetic specialists regarding genetic testing, prophylactic surgery and insurance discrimination.
Assessing Awareness of GINA Among Nurse Practitioners: A Pilot Study Steck et al (2016) 14	Nurse practitioner volunteers from two South Carolina nurse practitioner associations	239 NPs were invited to participate 65 NPs completed the survey	34% of nurse practitioners were aware of GINA. There was no statistically significant relationship between awareness of the law and clinical specialty area, years of practice, age, or academic preparation.	The majority respondents are not aware of GINA. Greater research among NPs should be conducted.
Individual Perspectives
Consumer Awareness and Attitudes About Insurance Discrimination Post Enactment of GINA Allain et al (2012) 12	Individuals who made contact with an advocacy group targeting individuals at risk or affected by Hereditary Breast and Ovarian Cancer Syndrome	1,699 individuals 81.2% were between the ages of 35–64 years and 97.2% were female	Respondents indicated that they were worried about health insurance discrimination (60.5%); employment discrimination (28.6%); life insurance discrimination (52.2%); disability insurance discrimination (33.6%);, and access to long term care (34.2%). 54.3% of respondents had not heard of GINA prior to taking the survey. 64.2% of individuals were worried about health insurance discrimination if they had prior knowledge of GINA; compared to 55.8% of individuals with no prior knowledge of GINA. But, of those who had no prior knowledge of GINA, reading about the law made 64.7 % feel less worried about discrimination.	Knowledge of GINA among consumers is still limited and public education may help promote reduction in fear of genetic discrimination.
Knowledge of GINA Among Individuals Affected by Huntington Disease Dorsey et al (2013) 17	4 Member categories:(1) individuals with clinically diagnosed HD; (2) pre-symptomatic individuals who carried an expanded allele, but were not clinically diagnosed; (3) first-degree or second-degree relatives; and (4) caregivers and spouses	776 identified as potential respondents; 410 respondents completed the survey (53% response rate)	Respondents were less familiar with GINA (41%) than with HIPAA (65%). Less than half of respondents familiar with GINA correctly identified the law’s provisions in employment (46.2%), health insurance (43.2%), and participation in genetic research studies (32.0%). Correct identification of the lack of protection in other insurances was lower (in those familiar with the law): life insurance (14.8%), long-term care insurance (11.8%), and disability insurance (10.1%).	“The lack of knowledge of GINA was present among individuals affected by HD, who have historically either experienced or been at risk for genetic discrimination and are a population that the legislation seeks to protect.” “The effectiveness of the legislation may be limited by this lack of knowledge.”
Awareness of the US Genetic Information Nondiscrimination Act of 2008: An Online Survey Huang et al (2013) 18	General U.S. population of adults aged 18–64	295 respondents	8.8% of respondents had ever heard of GINA. Only 3.4% of those who had heard of GINA could correctly identify the law’s protections in health insurance and employment.	“Three years after GINA 2008 was signed into US federal law, people’s awareness of this law was found to be low. More effective dissemination of information related to this federal law may be required to improve protection against genetic discrimination.”
Public Awareness of Genetic Nondiscrimination Laws in Four States and Perceived Importance of Life Insurance Protections Parkman et al (2015) 19	Obtained survey results from the Behavioral Risk Factor Surveillance System’s 2010 telephone survey of non-institutionalized residents aged 18 or older in CT, OH, MI, & OR.	Response rates: Connecticut: 47.5%; Michigan: 56.9%; Ohio: 52.8% Oregon: 39.1%	20% of respondents were aware of genetic discrimination laws. Lower education and in 3 states lower incomes were associated with lower knowledge. More than 2/3rds of respondents were concerned about life insurance discrimination.	“Results indicate a need for more public education to raise awareness of protections provided through current genetic nondiscrimination laws. The high rate of concern about life insurance discrimination indicates an additional need for continued dialogue regarding the extent of legal protections in genetic nondiscrimination laws.”
Respondents and Study Decliners’ Perspectives About the Risks of Participating in a Clinical Trial of Whole Genome Sequencing Robinson et al (2016) 21	Patients of 9 cardiologists and 11 primary care physicians	511	28% of active decliners cited insurance discrimination concerns and 33% discussed this during informed consent. Individuals mentioned concern for family member access to insurance.	”Given that we found that the potential for insurance discrimination and privacy were often cited ELSI-related risks by both respondents and active decliners, and despite laws designed to address these issues, lack of public knowledge surrounding these laws remains a problem.”
Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium Amendola et al (2018) 20	Participating projects from the CSER consortium	Not provided.	Study logistics was most frequently cited as reason for declining (35%), but concerns regarding privacy and discrimination was giving by 13%. Additionally, privacy was the only reason cited by potential respondents at each of the six CSER sites reporting on reasons for decline.	“Concerns across the six sites regarding privacy and insurance discrimination highlight the sensitivity of these issues. It is important to provide balanced education about the potential for discrimination to both providers… and potential respondents..”
Genetic Testing Across Young Hispanic and Non-Hispanic White Breast Cancer Survivors: Facilitators, Barriers, and Awareness of GINA Cragun et al (2019) 16	Women diagnosed with BC 50 years or younger in 2009–2012 were recruited through the Florida State Cancer Registry	1,182 respondents 285 Hispanic and 895 NHW women	20% of respondents aware of GINA. 7% were concerned about misuse of genetic test results, including 19% who were aware of GINA. More of those who has undergone testing were aware of GINA (27%) than those untested (15%).	“Most respondents were unaware of GINA; awareness was lower among those who were untested, but was similar across ethnic groups.”