Anya E.R. Prince

Prevention for those who can pay: insurance reimbursement of genetic-based preventive interventions in the liminal state between health and disease

Clinical use of genetic testing to predict adult onset conditions allows individuals to minimize or circumvent disease when preventive medical interventions are available. Recent policy recommendations and changes expand patient access to information about asymptomatic genetic conditions and create mechanisms for expanded insurance coverage for genetic tests. The American College of Medical Genetics and Genomics (ACMG) recommends that laboratories provide incidental findings of medically actionable genetic variants after whole genome sequencing. The Patient Protection and Affordable Care Act (ACA) established mechanisms to mandate coverage for genetic tests, such as BRCA. The ACA and ACMG, however, do not address insurance coverage for preventive interventions. These policies equate access to testing as access to prevention, without exploring the accessibility and affordability of interventions. In reality, insurance coverage for preventive interventions in asymptomatic adults is variable given the US health insurance systems focus on treatment. Health disparities will be exacerbated if only privileged segments of society can access preventive interventions, such as prophylactic surgeries, screenings, or medication. To ensure equitable access to interventions, federal or state legislatures should mandate insurance coverage for both predictive genetic testing and recommended follow-up interventions included in a list established by an expert panel or regulatory body.

Factors Which Impact the Delivery of Genetic Risk Assessment Services Focused on Inherited Cancer Genomics: Expanding the Role and Reach of Certified Genetics Professionals

There is tremendous excitement about the promise of new genomic technologies to transform medical practice and improve patient care. Although the full power of genetic diagnosis has not yet been realized, paradigms of clinical decision-making are changing. In fact, recent policy level changes to promote genetic counseling by certified genetics professionals (GP) such as genetic counselors and clinical geneticists, are occurring at both the payer and state level. However, there remain opportunities to develop policies within the United States to: 1) enhance the access to the limited workforce of GPs; 2) revise reimbursement schemes such that costs to deliver these services may be recouped by institutions with GPs; and 3) protect against the potential for discrimination based on genetic information. Although many of these issues predate advances in genomic technologies, they are exacerbated by them, with increasing access and awareness as costs of testing decrease. Consequently, evolving shifts in national policies poise GPs to serve as a hub of information and may be instrumental in facilitating new models to deliver genetics-based care through promoting academic-community partnerships and interfacing with non-GPs. As we acknowledge the potential for genomics to revolutionize medical practice, the expertise of GPs may be leveraged to facilitate incorporation of this information into mainstream medicine.

Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews.

Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews

Age and perceived risks and benefits of preventive genomic screening

PurposeAs genome sequencing moves from research to clinical practice, sequencing technologies focused on “medically actionable” targets are being promoted for preventive screening despite the dearth of systematic evidence of risks and benefits and of criteria for selection of screening subjects. This study investigates researchers’ and research participants’ perceptions of these issues within the context of a preventive genomic screening study, GeneScreen.MethodsWe recorded researcher deliberations regarding age eligibility criteria and the risks and benefits of screening, and conducted interviews with 50 GeneScreen participants about their motivations for joining and their perceptions of risks and benefits.ResultsResearchers made assumptions about who would want and benefit from screening based on age. After discussion, researchers opted not to have an upper age limit for enrollment. Participants of all ages perceived similar benefits, including prevention, treatment, and cascade testing, and similar risks, such as insurance discrimination and worry.ConclusionWhile clinical benefits of preventive genomic screening for older adults are debatable, our respondents perceived a range of benefits of screening in both clinical and research settings. Researchers and clinicians should carefully consider decisions about whether to exclude older adults and whether to provide information about benefits and risks across age groups.

Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review

Background The emerging dual imperatives of personalized medicine and technologic advances make population screening for preventable conditions resulting from genetic alterations a realistic possibility. Lynch syndrome is a potential screening target due to its prevalence, penetrance, and the availability of well-established, preventive interventions. However, while population screening may lower incidence of preventable conditions, implementation without evidence may lead to unintentional harms. We examined the literature to determine whether evidence exists that screening for Lynch-associated mismatch repair (MMR) gene mutations leads to improved overall survival, cancer-specific survival, or quality of life. Documenting evidence and gaps is critical to implementing genomic approaches in public health and guiding future research. Materials and methods Our 2014–2015 systematic review identified studies comparing screening with no screening in the general population, and controlled studies assessing analytic validity of targeted next-generation sequencing, and benefits or harms of interventions or screening. We conducted meta-analyses for the association between early or more frequent colonoscopies and health outcomes. Results Twelve studies met our eligibility criteria. No adequate evidence directly addressed the main question or the harms of screening in the general population. Meta-analyses found relative reductions of 68% for colorectal cancer incidence (relative risk: 0.32, 95% confidence interval: 0.23–0.43, three cohort studies, 590 participants) and 78% for all-cause mortality (relative risk: 0.22, 95% confidence interval: 0.09–0.56, three cohort studies, 590 participants) for early or more frequent colonoscopies among family members of people with cancer who also had an associated MMR gene mutation. Conclusion Inadequate evidence exists examining harms and benefits of population-based screening for Lynch syndrome. Lack of evidence highlights the need for data that directly compare benefits and harms.

Reconceptualizing harms and benefits in the genomic age

As new, high-powered sequencing technologies are increasingly incorporated into genomics research, we believe that there has been a break point in how risks and benefits associated with genetic information are being characterized and understood. Genomic sequencing provides the potential benefit of a wealth of information, but also has the potential to alter how we conceptualize risks of sequencing. Until now, our conceptions of risks and benefits have been generally static, arising out of the early ethical, legal and social implications studies conducted in the context of targeted genetics. This paper investigates how the increasing availability of genetic information is changing views about risks and benefits, particularly examining our evolving understanding of psychosocial harms and our expanding conception of benefit. We argue that the lack of robust empirical evidence of psychosocial harms and the expanding view that benefits of genomic research include indirect familial benefit necessitate continued ethical, legal and social implications research.

Analysis of state laws on informed consent for clinical genetic testing in the era of genomic sequencing

This article assesses the adequacy of informed consent to clinical genetic testing laws based on an examination of 15 states with institutions that had been involved in a National Institutes of Health‐supported Clinical Sequencing Exploratory Research Consortium project. We identified relevant statutory provisions through a legal search engine and included statutes that describe the informed consent requirements for clinical genetic testing and/or the protections for genetic material, information, or data. We found that statutory definitions were often limited in problematic ways, such as focusing only on variants known to be associated with disease or negative health effects or associated with asymptomatic disease. Some statutes required complex levels of detail if applied to genomic technologies and set confusing disclosure standards for current use and future access. Others had exceptions from informed consent requirements for future research use, limited requirements for the destruction of specimens as opposed to derived data, or linked key definitional components to the evolving concept of “identifiability.” Further reform and research are needed to ensure that state law protections advance as rapidly as the science they aspire to enable.

Membership recruitment and training in health care ethics committees: Results from a national pilot survey

ABSTRACT This pilot study reports on a survey regarding recruitment, appointment, and training of members for health care ethics committees (HCECs). Background: Past studies have examined HCECs, but have focused on the roles of the committees and the broad makeup of membership. Thus, our study fills an important knowledge gap in trends of membership recruitment and appointment processes employed by HCECs to comprise their membership. Methods: We posted our survey on several bioethics listservs between June and August 2015. Of the 103 respondents that started the survey, 59 were eligible for inclusion based on our criteria. We analyzed survey results descriptively and qualitatively. Results: Overall we found no unifying standards of recruitment or appointment across the 59 respondents. Additionally, while responding committees varied in the professional backgrounds and attributes they valued in potential members, we found that most respondents valued traits of the applicants over specific knowledge or skills. Conclusions: This study provides a first look into how HCECs recruit members. Future research is needed to better understand the complexities of the issues discovered during this study, given that the HCEC members appointed are the individuals who fulfill committee obligations.

Response to peer commentaries: prevention for those who can pay

Genetic testing for medically actionable genetic conditions can potentially limit the incidence and societal burden of disease if asymptomatic individuals can convert knowledge of their risk into preventive ormitigating steps.However, the generally treatmentfocusedUS insurance system complicates reimbursement for preventive interventions. In ‘Prevention for those who can pay’, I examined insurance coverage for preventive interventions following genetic testing in asymptomatic individuals.1 Overall, I highlighted the difficulties these individuals may face in obtaining insurance reimbursement, and I problematized the development of policies that increase access to testing for medically actionable genetic conditions without considering insurance reimbursement for the accompanying interventions.Without comprehensive insurance coverage for interventions across all public and private insurances, these developments will only exacerbate entrenched health disparities. In their respective peer commentaries, both Sarah Malanga and colleagues2 and Sonia Sutter3 elaborate on the complexities of insurance coverage in the liminal state between health and disease. I am grateful to the authors for their thoughtful contributions and for the opportunity to continue this critical dialogue. While both commentaries seek to move the conversation forward, they approach it from different angles. Malanga et al. examine publically available insurance policy documents for interventions recommended for individuals with hereditary breast and ovarian cancer (HBOC) and catecholaminergic polymorphic ventricular tachycardia (CPVT) and conclude