Medicolegal and insurance issues regarding BRCA1 and BRCA2 gene tests in high income countries.

Hereditary breast and ovarian cancer syndrome is an autosomal dominant cancer susceptibility syndrome mainly due to variants in BRCA1 or BRCA2 genes. Patients presenting with BRCA1 or BRCA2 gene mutations have a lifetime risk of developing breast or ovarian cancer (80% and 40%, respectively). Genetic testing to explore the predisposition to develop cancer represents a pivotal factor in such cases, and this review wants to explore the main implications in terms of medicolegal liability and insurance issues. Medicolegal issues related to these diagnostic processes include: (a) failure to recommend the test; (b) failure to properly interpret the test; (c) failure to correctly translate results into clinical practice; (d) lack of informed consent; and (e) failure to refer patients to specialized genetic counseling. Such errors may lead to compensation since the legal burden inherent in the efficacy of prophylactic interventions is a proof that requires the so-called 'preponderance of the evidence'. Concerning insurance issues, the carriers of such alleles without cancer are healthy because the genetic predisposition is not a disease per se but represents a (relevant) health risk. However, disclosure of these conditions can be impelled by insurers. It can lead to so-called 'genetic discrimination' because insurance companies might use genetic information to limit insurance options or increase their costs. Many private and public healthcare funders do not cover risk reducing surgeries, even when recommended as part of a risk reduction management plan for BRCA gene mutation carriers. Here, positions on these matters from different high income countries are discussed, stressing the importance of a common supranational or international regulatory framework to reach a trade-off between the economic interests of insurers and the rights of carriers not to disclose extremely sensitive information.

Clinician perspectives on policy approaches to genetic risk disclosure in families.

Genomic sequencing has emerged as a powerful tool with significant implications for patients and their relatives, however, empirical evidence suggests that effective dissemination of risk information within families remains a challenge. Policy responses to address this issue vary across countries, with Belgium notably lacking specific regulations governing nondisclosure of genetic risk. In this study, we conducted semi-structured interviews with clinicians from Belgian clinical genetics centers to gain insight into their perspectives on policy approaches to the disclosure of genetic risk within families. Using real-world examples of legislation and court rulings from France, Australia, and the UK, we explored clinician viewpoints on the roles and responsibilities of both patients and clinicians in the family communication process. Clinicians expressed confusion regarding what was legally permissible regarding contacting at-risk relatives. While there was a consensus among participants that patients have a responsibility to inform their at-risk relatives, participants were hesitant to support the legal enforcement of this duty. Clinicians mostly recognized some responsibility to at-risk relatives, but the extent of this responsibility was a subject of division. Our findings highlight the need for a comprehensive policy that clarifies the roles and responsibilities of clinicians and patients to inform at-risk relatives. Furthermore, the study underscores the practical challenges clinicians face in supporting patients through the complex process of family communication, suggesting a need for additional resources and the exploration of alternative approaches to communication.

Importance of Effective Regulation for the Chinese Genetic Testing Industry.

The genetic testing industry is progressing rapidly. In particular, the demand of patients with tumors for diagnosis, treatment, and testing drives genetic testing to develop further. Simultaneously, the potential risks of genetic testing cause severe challenges to regulatory departments. In China, a targeted, clear, and unified management model remains absent.

Direct-to-consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies.

Direct-to-consumer (DTC) commercial companies offer genetic tests that are presented as allowing individuals the opportunity to increase their capacities to be in charge of their own healthcare managements. DTC companies deny performing medical tests, yet they provide data based on sequencing multigene panel or whole exome. This contradiction allows these companies to escape the requirements of a regulated medical practice that guarantees the quality of the tests, as well as the information and support for tested individuals. Herein, we illustrate the lack of such requirements by analysing the bad experience of a young man who dealt with DTC health genetic testing companies. There is an emergency for DTC testing to be either deprived of any medically relevant information, or carried out in a legally regulated medical framework.

Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry.

BACKGROUND: Barriers to genetic testing and subsequent family cascade screening for familial hypercholesterolemia (FH) include cost, patient and provider awareness, privacy and discrimination concerns, need for a physician order, underutilization of genetic counselors, and family concerns about the implications of genetic testing for care. OBJECTIVES: The objective of the study was to determine the uptake of genetic testing with cost and privacy removed. METHODS: The FH Foundation offered free genetic testing and counseling to patients in the patient portal of the CASCADE FH Registry, who had not previously undergone genetic testing for 3 genes associated with FH (LDLR, APOB, and PCSK9). The free testing offer was extended to first-degree relatives of participants who had a positive genetic test result for cascade screening. RESULTS: Of 435 eligible patients, 147 opted in to participate, 122 consented, and 110 (68.2% female, median age: 52 years) received genetic testing. Of the participants, 64 had a positive genetic test result for a pathogenic variant in LDLR (59) or APOB (5); 11 had a variant of uncertain significance. Only 3 first-degrees relatives underwent genetic testing. CONCLUSIONS: Although there was substantial interest in genetic testing, uptake of family cascade screening was poor. Innovative approaches to increase family cascade screening should be explored.

Legal Considerations in Genetic Screening and Testing: Three Case Studies: ACOG Committee Opinion Summary, Number 805.

The rapidly evolving genetic technologies that are available to patients and obstetrician-gynecologists have transformed the practice of clinical medicine. From cell-free DNA screening technologies in pregnancy to expanded carrier screening and hereditary cancer gene panels, obstetrician-gynecologists often are faced with questions about their legal responsibilities regarding genetic information as well as the legal ramifications of this information for their patients.The Committee on Genetics has constructed the following case studies to highlight some of the legal issues an obstetrician-gynecologist may encounter when performing genetic testing. These cases do not cover the breadth of legal issues affecting clinical genetics, but rather they illustrate certain legal concepts and principles as well as key pieces of legislation that are pertinent to clinical care. These case descriptions are not intended to serve as legal advice. Obstetrician-gynecologists are strongly encouraged to seek expert legal assistance to resolve questions involving legal rights or responsibilities.

Legal Considerations in Genetic Screening and Testing: Three Case Studies: ACOG Committee Opinion, Number 805.

The rapidly evolving genetic technologies that are available to patients and obstetrician-gynecologists have transformed the practice of clinical medicine. From cell-free DNA screening technologies in pregnancy to expanded carrier screening and hereditary cancer gene panels, obstetrician-gynecologists often are faced with questions about their legal responsibilities regarding genetic information as well as the legal ramifications of this information for their patients.The Committee on Genetics has constructed the following case studies to highlight some of the legal issues an obstetrician-gynecologist may encounter when performing genetic testing. These cases do not cover the breadth of legal issues affecting clinical genetics, but rather they illustrate certain legal concepts and principles as well as key pieces of legislation that are pertinent to clinical care. These case descriptions are not intended to serve as legal advice. Obstetrician-gynecologists are strongly encouraged to seek expert legal assistance to resolve questions involving legal rights or responsibilities.

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.

Navigating the Intersection between Genomic Research and Clinical Practice.

The Risk Assessment Program (RAP) at Fox Chase Cancer Center (Philadelphia, PA) is a multi-generational prospective cohort, enhanced for personal and family history of cancer, consisting of over 10,000 individuals for whom data on personal and family history of cancer, risk factors, genetic and genomic data, health behaviors, and biospecimens are available. The RAP has a broad research agenda including the characterization of genes with known or potential relevance to cancer, gene-gene and gene-environment interactions, and their contribution to clinically useful risk assessment and risk reduction strategies. Increasingly, this body of research is identifying genetic changes which may have clinical significance for RAP research participants, leading us to confront the issue of whether to return genetic results emerging from research laboratories. This review will describe some of the important fundamental points that must be debated as we develop a paradigm for return of research results. The key issues to address as the scientific community moves toward adopting a policy of return of research results include the best criteria for determining which results to offer, the consent document components necessary to ensure that the participant makes a truly informed decision about receiving their results, and associated logistical and cost challenges.See all articles in this Special Collection Honoring Paul F. Engstrom, MD, Champion of Cancer Prevention.

Current Policy Challenges in Genomic Medicine.

BACKGROUND: Molecular genetic testing has raised a variety of policy issues, ranging from privacy to reimbursement. Recently, payment policies have become of paramount importance as Medicare implemented the first significant change to test pricing since 1984 and announced a broad national coverage policy for the use of next-generation sequencing (NGS) in cancer patients that contains significant restrictions. Regulatory and oversight concerns have been important topics for discussion as the US Food and Drug Administration (FDA), Congress, and stakeholders have focused on new approaches to regulation of laboratory-developed tests (LDTs). Patents on gene sequences and relationships between genetic variants and clinical phenotypes have been points of contention since the field's inception. Two Supreme Court cases invalidated patents on gene sequences and biological relationships, ushering in the era of NGS and precision medicine. However, a recent legislative proposal threatens to reverse these gains and restore gene patents as barriers to progress in genetic and genomic testing and the implementation of genomic medicine. CONTENT: This review discusses current issues in payment policy, laboratory oversight, and gene patenting and their potential impacts on genetic and genomic testing. SUMMARY: Coverage and reimbursement policies present serious challenges to genetic and genomic testing. The potential for FDA regulation of LDTs looms as a significant threat to diagnostic innovation, patient access, and the viability of molecular genetic testing laboratories. Changes in patent law could cause gene patents to reemerge as barriers to the advancement of genomic medicine.

Black Women's Confidence in the Genetic Information Nondiscrimination Act.

Black women at-risk for hereditary breast and ovarian cancer (HBOC) continue to underutilize genetic counseling and testing (GCT). One reason for this disparity is a fear of discrimination from insurance companies if identified as high-risk. The Genetic Information Nondiscrimination Act (GINA) was enacted to protect against this type of discrimination; however, Black women's levels of confidence in this law are unknown. In this descriptive study, we sought to (1) assess Black women's confidence in the GINA law and (2) identify multilevel factors related to their confidence in GINA. Ninety-four Black women at-risk of HBOC completed surveys that assessed intrapersonal, interpersonal, and structural factors. Multiple regression analysis determined factors associated with confidence in GINA. Most women were ≤50 years of age (66.0%) and about half never had a cancer diagnosis (51.1%). Confidence in GINA was moderate (mean = 10.67; standard deviation = 2.54; range = 5-15). Women who valued GCT reported more confidence in GINA (ß = 0.345; CI 0.017 to 0.673; p = 0.040). Lack of confidence in GINA may serve as a barrier to seeking GCT. Efforts to increase the perceived value of GCT among Black women could be benefited by increasing awareness of national efforts towards privacy protections of genetic information.

The DNA of a Testing Scam.

Federal agents raided a number of genetic testing laboratories in September 2019, resulting in 35 people being charged with fraudulent genetic testing associated with an estimated $2.1 billion in losses to federal healthcare insurance programs. The scams work in several ways. In some cases, an older adult is contacted by a customer service representative of the testing laboratory and told that Medicare pays for the genetic testing ordered, based on a simple cheek swab sample. This occurs when representatives of the testing laboratory have "arrangements" with providers who order the tests, often without the provider examining the patient. These providers may receive financial payment or other gifts for their efforts.

Familial disclosure by genetic healthcare professionals: a useful but sparingly used legal provision in France.

Familial disclosure of genetic information is an important, long-standing ethical issue that still gives rise to much debate. In France, recent legislation has created an innovative and unprecedented procedure that allows healthcare professionals (HCPs), under certain conditions, to disclose relevant information to relatives of a person carrying a deleterious genetic mutation. This article will analyse how HCPs in two medical genetics clinics have reacted to these new legal provisions and show how their reticence to inform the patients' relatives on their behalf leads them to use this option sparingly.

Patients v. Myriad or the GDPR Access Right v. the EU Database Right.

In 2016, four US cancer patients legally challenged Myriad by claiming full access to all genomic information produced in the course of Myriad's testing of their risks for a variety of cancers. Asserting that Myriad's refusal to provide them with this information violated the HIPAA Privacy Rule, the patients sought a determination of a right to access all their genetic information from testing laboratories. Such access would not only serve their own care, but also enable them to share their genetic data with the scientific community which they alleged Myriad failed to do. A similar case may be brought in Europe under the novel EU GDPR. Specifically, it would put the GDPR right of access to personal data against Myriad's database right under the EU Database Right Directive. The outcome of this case could impact the fate of personalized medicine, which depends on the one hand on patients' having control over their genetic data, and on the other hand on incentives for genetic testing companies to generate these data. We first address the issue of whether the GDPR applies to medical records. We then analyse how GDPR rights could play out in the context of clinical genetic testing and conclude that the GDPR access right stops short of granting unconditional access to all data generated in the process of testing, to the extent that its exercise would result in the violation of medical-professional norms, expose the testing company to potential liability, or compromise normal exploitation of the database of which the personal data form part.

Direct-To-Consumer Genetic Testing: Is the Public Ready for Simple, At-Home DNA Tests to Detect Disease Risk?

Most genetic testing requires a doctor's prescription. In April 2017, however, the U.S. Food and Drug Administration (FDA) gave genetics company 23andMe the go-ahead to sell DNA tests assessing the user's level of risk for ten health conditions, including Parkinson's disease and late-onset Alzheimer's disease. This was followed nearly a year later by approval to sell tests for three mutations in the genes BRCA1 and BRCA2 linked to increased breast cancer risk. These remain the only FDA-approved direct-to-consumer (DTC) tests for genetic risk of disease.