Including ELSI research questions in newborn screening pilot studies.

BACKGROUND: The evidence review processes for adding new conditions to state newborn screening (NBS) panels rely on data from pilot studies aimed at assessing the potential benefits and harms of screening. However, the consideration of ethical, legal, and social implications (ELSI) of screening within this research has been limited. This paper outlines important ELSI issues related to newborn screening policy and practices as a resource to help researchers integrate ELSI into NBS pilot studies. APPROACH: Members of the Bioethics and Legal Workgroup for the Newborn Screening Translational Research Network facilitated a series of professional and public discussions aimed at engaging NBS stakeholders to identify important existing and emerging ELSI challenges accompanying NBS. RESULTS: Through these engagement activities, we identified a set of key ELSI questions related to (1) the types of results parents may receive through newborn screening and (2) the initiation and implementation of NBS for a condition within the NBS system. CONCLUSION: Integrating ELSI questions into pilot studies will help NBS programs to better understand the potential impact of screening for a new condition on newborns and families, and make crucial policy decisions aimed at maximized benefits and mitigating the potential negative medical or social implications of screening.

Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening.

Newborn screening programs are state based with variable policies. Guidance regarding the retention, storage, and use of portions of newborn screening dried blood spots that remain after screening (residual specimens) was first published in 1996. Since then, newborn screening programs have paid increased attention to specimen storage and usage issues. Standard residual specimen uses include quality assurance and program evaluation, treatment efficacy, test refinement, and result verification. In all cases, privacy and security are primary concerns. In general, two distinct state practices regarding the storage and use of residual newborn screening specimens exist: (1) short-term storage (<3 years), primarily for standard program uses and (2) long-term storage (>18 years), for standard program uses and possible important public health research uses. Recently, there have been concerns in some consumer communities regarding both the potential uses of residual specimens and patient (newborn and family) privacy. To assist in policy improvements that can protect the individual's privacy and allow for important public health uses of residual newborn screening specimens, the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children has developed recommendations (with requested action by the Secretary where applicable). This report presents the Committee's recommendations and reviews the pertinent associated issues.

Toward Improving Practices for Submission of Diagnostic Tissue Blocks for National Cancer Institute Clinical Trials.

OBJECTIVES: The National Cancer Institute (NCI) National Clinical Trials Network performs phase II and III clinical trials, which increasingly rely on the submission of diagnostic formalin-fixed, paraffin-embedded tissue blocks for biomarker assessment. Simultaneously, advances in precision oncology require that clinical centers maintain diagnostic specimens for ancillary, standard-of-care diagnostics. This has caused tissue blocks to become a limited resource for advancing the NCI clinical trial enterprise and the practice of modern molecular pathology. METHODS: The NCI convened a 1-day workshop of multidisciplined experts to discuss barriers and strategic solutions to facilitate diagnostic block submission for clinical trial science, from the perspective of patient advocates, legal experts, pathologists, and clinical oncologists. RESULTS: The expert views and opinions were carefully noted and reported. CONCLUSIONS: Recommendations were proposed to reduce institutional barriers and to assist organizations in developing clear policies regarding diagnostic block submission for clinical trials.

Constitutional Challenges to Liver Transplant Policy.

BACKGROUND: Liver transplant candidacy determination can be contentious. When transplantation is declined for reasons perceived as violating fundamental rights or discriminating against a protected class-for example, age, race, religion, nationality-the case may involve a constitutional claim. Judicial review of such cases may result in decisions with sweeping implications for transplant policy. METHODS: We reviewed all published court opinions involving liver transplantation in 2 legal databases (Lexis Nexus and WestLaw). We included all cases that involved a denial of liver transplant candidacy in violation of constitutional rights. RESULTS: The search returned 1562 cases: 290 involved the denial of insurance coverage for a transplant due to a patient's failure to abstain from drinking, 273 cases involved incarcerated inmates who were denied a liver transplant, 2 involved a constitutional claim for patient requesting a bloodless transplant for religious reasons, and 2 cases arose from age discrimination in transplant criteria. These cases highlight legal pitfalls related to the First Amendment (religious freedom), Eighth Amendment (cruel and unusual punishment), and the Fourteenth Amendment (equal protection and due process). CONCLUSIONS: The risk of a constitutional claim highlights concrete steps needed to ensure the equity of transplant policy. These include efforts to standardize transplant candidacy criteria across payers for candidates with alcohol-related liver disease and advanced age. Efforts to constrain emerging liabilities related to the citizenship of transplant candidates and the definition of donor service areas are also discussed.

Do radiology and other health care presentations posted on the Internet contain accessible protected health information?

PURPOSE: To determine the prevalence of protected health information (PHI) in PowerPoint presentations available for downloading from the Internet. MATERIALS AND METHODS: No institutional review board approval was needed for this project, which involved no patient subjects. Two Google searches, each limited to PowerPoint files, were performed by using the criteria "Cardiac CT" and "Magnetic Resonance Imaging." The first 100 hits of each search were downloaded from the source Web site. The presentations were examined for the PHI contained on any images, links, or notes pages. RESULTS: Two hundred presentations were evaluated. There were 143 presentations with images, image links, or notes, and 52 (36%) of these contained PHI. There were 129 presentations containing radiologic images; 51 (40%) of these contained PHI, and 31 (24%) showed the patient's name. At least 132 (66%) of the 200 presentations originated from the United States. Thirty-five (37%) of 94 presentations with images, image links, or notes contained PHI. Eighty-six U.S. presentations contained radiologic images; 34 (40%) of these contained PHI, and 19 (22%) showed the patient's name. CONCLUSION: Online or other distributions of PowerPoint presentations that contain radiologic images often contain PHI, and this may violate laws, including the U.S. Health Insurance Portability and Accountability Act.

Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations.

Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne is a 100% fatal disease, the clinical community has demonstrated that immediate identification and early clinical interventions can add years, even decades to an individual's life span. In anticipation of the changing therapeutic landscape for the Duchenne community, Parent Project Muscular Dystrophy established a newborn screening (NBS) initiative. This initiative included a Bioethics and Legal Issues Workgroup to consider the bioethics and legal issues of NBS for Duchenne. The workgroup's discussion focused only on Duchenne NBS and met through conference calls over a one-year period of time seeking consensus on various identified issues. This article reports on the findings and recommendations from that workgroup.

Do US Medical Licensing Applications Treat Mental and Physical Illness Equivalently?

BACKGROUND AND OBJECTIVES: State medical licensing boards are responsible for evaluating physician impairment. Given the stigma generated by mental health issues among physicians and in the medical training culture, we were interested in whether states asked about mental and physical health conditions differently and whether questions focused on current impairment. METHODS: Two authors reviewed physician medical licensing applications for US physicians seeking first-time licensing in 2013 in the 50 states and the District of Columbia. Questions about physical and mental health, as well as substance abuse, were identified and coded as to whether or not they asked about diagnosis and/or treatment or limited the questions to conditions causing physician impairment. RESULTS: Forty-three (84%) states asked questions about mental health conditions, 43 (84%) about physical health conditions, and 47 (92%) about substance use. States were more likely to ask for history of treatment and prior hospitalization for mental health and substance use, compared with physical health disorders. Among states asking about mental health, just 23 (53%) limited all questions to disorders causing functional impairment and just 6 (14%) limited to current problems. CONCLUSIONS: While most state medical licensing boards ask about mental health conditions or treatment, only half limited queries to disorders causing impairment. Differences in how state licensing boards assess mental health raise important ethical and legal questions about assessing physician ability to practice and may discourage treatment for physicians who might otherwise benefit from appropriate care.

Potential impact of the HIPAA privacy rule on data collection in a registry of patients with acute coronary syndrome.

BACKGROUND: Implementation of the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule has the potential to affect data collection in outcomes research. METHODS: To examine the extent to which data collection may be affected by the HIPAA Privacy Rule, we used a quasi-experimental pretest-posttest study design to assess participation rates with informed consent in 2 cohorts of patients eligible for the University of Michigan Acute Coronary Syndrome registry. The pre-HIPAA period included telephone interviews conducted at 6 months that sought verbal informed consent from patients. In the post-HIPAA period, informed consent forms were mailed to ask for permission to call to conduct a telephone interview. The primary outcome measure was the percentage of patients who provided consent. Incremental costs associated with the post-HIPAA period were also assessed. RESULTS: The pre-HIPAA period included 1221 consecutive patients with acute coronary syndrome, and the post-HIPAA period included 967 patients. Consent for follow-up declined from 96.4% in the pre-HIPAA period to 34.0% in the post-HIPAA period (P<.01). In general, patients who returned written consent forms during the post-HIPAA period were older, were more likely to be married, and had lower mortality rates at 6 months. Incremental costs for complying with the HIPAA Privacy Rule were $8704.50 for the first year and $4558.50 annually thereafter. CONCLUSIONS: The HIPAA Privacy Rule significantly decreases the number of patients available for outcomes research and introduces selection bias in data collection for patient registries.

Cutting costs through prevention.

This is an examination of a proven model, developed by MDVIP, for delivering cost-effective preventive medicine that is not possible in traditional primary care practices. Successful preventive care demands an in-depth assessment of health risk factors, appropriate screenings, and planning for long-term wellness goals based upon individual medical needs. In today's healthcare climate, the only way to offer comprehensive, quality service is by dramatically reducing practice size to no more than 600 patients, affording physicians the time needed to provide proactive medical care. The data show that with this model, patients have reduced hospital visits, shorter lengths of stay, and reduced costs. This model is commonly referred to as "concierge" medicine, of which MDVIP-affiliated physicians constitute 25 percent of the estimated 300 concierge practices nationally.

"I would never want to have a mental health diagnosis on my record": A survey of female physicians on mental health diagnosis, treatment, and reporting.

INTRODUCTION: Physicians have high rates of suicide and depression. Most state medical boards require disclosure of mental health problems on physician licensing applications, which has been theorized to increase stigma about mental health and prevent help-seeking among physicians. METHODS: We surveyed a convenience sample of female physician-parents on a closed Facebook group. The anonymous 24-question survey asked about mental health history and treatment, perceptions of stigma, opinions about state licensing questions on mental health, and personal experiences with reporting. RESULTS: 2106 women responded, representing all 50 states and the District of Columbia. Most respondents were aged 30-59. Almost 50% of women believed that they had met the criteria for mental illness but had not sought treatment. Key reasons for avoiding care included a belief they could manage independently, limited time, fear of reporting to a medical licensing board, and the belief that diagnosis was embarrassing or shameful. Only 6% of physicians with formal diagnosis or treatment of mental illness had disclosed to their state. CONCLUSIONS: Women physicians report substantial and persistent fear regarding stigma which inhibits both treatment and disclosure. Licensing questions, particularly those asking about a diagnosis or treatment rather than functional impairment may contribute to treatment reluctance.

Legal considerations for cryopreservation of sperm and embryos.

OBJECTIVE: To summarize the case law for cryopreservation of sperm and embryos and make recommendations for desirable characteristics that should be included in a cryopreservation clinic's disposition agreements. DESIGN: A literature review of case law and legal review articles was performed. SETTING: Academic research center. PATIENT(S): None. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): None. RESULT(S): Two court cases involving cryopreserved semen and five cases involving cryopreserved embryos are reviewed. CONCLUSION(S): The state of the law surrounding cryopreservation is recent and unsettled. Disposition agreements can provide cryopreservation clinics some degree of certainty in this unsettled area of law. Those drafting cryopreservation disposition agreements are assisted by lessons learned from cryopreservation cases and insight gained from law review articles. It is evident that cryopreservation agreements will be most successful and most likely to be enforced if they are unambiguous, consistent with public policy, and include: a duration provision, each individual's contact information, the individual's provisions for use of their gametes in case of death, and responsibilities of cryopreservation clinic and individuals. Individuals must enter into agreements with a true understanding of the contained provisions.

Parental permission for pilot newborn screening research: guidelines from the NBSTRN.

There is broad recognition of the need for population-based research to assess the safety and efficacy of newborn screening (NBS) for conditions that are not on current panels. However, prospective population-based research poses significant ethical, regulatory, and logistical challenges. In the context of NBS, there have been a variety of approaches that address parental decision-making in pilot studies of new screening tests or conditions. This article presents an ethical and legal analysis of the role of parental permission by the Bioethics and Legal Work Group of the Newborn Screening Translational Research Network created under a contract from the National Institute of Child Health and Human Development to the American College of Medical Genetics and Genomics. Circumstances are outlined in which a waiver of documentation of permission or a waiver of permission may be ethically and legally appropriate in the NBS context. These guidelines do not constitute American Academy of Pediatrics policy.

The perils of SNP microarray testing: uncovering unexpected consanguinity.

BACKGROUND: Although single nucleotide polymorphism chromosomal microarrays identify areas of small genetic deletions or duplications, they can also reveal regions of homozygosity indicative of consanguinity. As more nongeneticists order single nucleotide polymorphism microarrays, they must prepare for the potential ethical, legal, and social issues that result from revelation of unanticipated consanguinity. PATIENT: We describe an infant with multiple congenital anomalies who underwent single nucleotide polymorphism microarray testing. RESULTS: The results of the single nucleotide polymorphism microarray revealed several large regions of homozygosity that indicated identity by descent most consistent with a second-degree or third-degree relative mating (e.g., uncle/niece, half-brother/sister, first cousins). The mother was not aware of the test's potential to reveal consanguinity. When informed of the test results, she reluctantly admitted to being raped by her half-brother around the time of conception. CONCLUSIONS: During the pretesting consent process, providers should inform parents that single nucleotide polymorphism microarray testing could reveal consanguinity. Providers must also understand the psychological implications, as well as the legal and moral obligations, that accompany single nucleotide polymorphism microarray results that indicate consanguinity.

Observational study of telephone consults by stroke experts supporting community tissue plasminogen activator delivery.

OBJECTIVES: Barriers to intravenous (IV) tissue plasminogen activator (tPA) use in ischemic stroke include limited treatment experience of community physicians. Models of acute stroke care have been designed to address these limitations by providing community support. These include support by telephone or televideo, with or without subsequent transport to tertiary care centers. The authors describe the frequency, characteristics, and effect of community phone consultations to a 24/7 stroke "hotline" staffed by stroke physicians at an academic stroke center using such a model. METHODS: Twelve intervention hospitals participating in the INcreasing Stroke Treatment through Interventional behavior Change Tactics (INSTINCT) trial were provided a single-access number ("hotline") for expert consultation on tPA use. Experts consisted of stroke-trained physicians at an academic medical center. Hotline use was not mandated by the study protocol, nor was patient transfer required. Consultants were required to record all treatment questions in a Web-based log. All patients discussed over the hotline and/or treated with tPA in an INSTINCT hospital underwent multilevel chart review by trained nurse coordinators. Cases were linked to logged hotline calls, based on the time of treatment and the initial treating hospital. Physician adjudicators assessed appropriateness of tPA treatment, presence of deviation from standard guidelines, and treatment complications (intracranial hemorrhage [ICH], systemic hemorrhage, or death). RESULTS: Over 27 months, there were a total of 204 hotline calls regarding 116 patients. Ninety-one percent of calls were between 8 a.m. and midnight, and 77% of questions explored issues of eligibility for IV tPA, particularly for minor stroke or improving stroke (26%). A total of 243 patients were treated with IV tPA at the 12 intervention hospitals, 54 of which were following hotline consult. Seventy-six percent of hotline patients in whom tPA was recommended actually received tPA, while 2% of those in whom tPA was not recommended received the medication. There were no differences in protocol deviations (27.8% hotline group vs. 23.8% nonhotline group), incidence of symptomatic ICH (5.6% vs. 7.3%), or in-hospital mortality (5.6% vs. 13.2%). No medico-legal issues have been reported for any case in the study. CONCLUSIONS: Providing tPA decision-making support via telephone consult to community physicians is feasible and safe. Consultants may play a more prominent role in determining tPA ineligibility than acceptance. Future work should include a real-time survey of physician providers to ascertain such potential qualitative benefits of a stroke hotline.