Moving to the Middle Ground: Redefining Genomic Utility to Expand Understanding of Familial Benefit.

Translational research has tended to ignore the question of whether receiving a genomic diagnosis provides utility in community care contexts outside of doctors' offices and hospitals. However, empirical research with parents has highlighted numerous ways that a genomic diagnosis might be of practical value in the care provided by teachers, physical or occupational therapists, speech-language pathologists, behavior analysts, and nonphysician mental health providers. In this essay, we propose a new conceptual model of genomic utility that offers the opportunity to better capture a broad range of potential implications of genomic technologies for families in various social and organizational systems. We explore crucial research directions to better understand how redefined utility might affect families and nonphysician professionals.

Genomics and Newborn Screening: Perspectives of Public Health Programs.

This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials. This project aims to help programs develop policies that will aid in the integration of genomic technology. Discussion groups were conducted with the NBS Program and Laboratory Directors in the seven HRSA Regional Genomics Collaboratives (August 2014-March 2016). The discussion groups addressed expected uses of genomics, potential benefits, and challenges of integrating genomic technology, and educational needs for parents and other NBS stakeholders: Twelve focus groups were conducted, which included participants from over 40 state programs. Benefits of incorporating genomics included improving screening modalities, supporting diagnostic procedures, and screening for a wider spectrum of disorders. Challenges included the costs of genomics, the ability to educate parents and health care providers about results, and the potential negative psychosocial impact of genomic information. Attempts to address the challenges of integrating genomics must focus on preserving the child welfare goals of NBS programs. Health departments will need to explore how genomics could be used to enhance programs while maintaining universal access to screening.

Obstetrician-Gynecologists' Practices in Postpartum Sterilization Without a Valid Medicaid Consent Form.

OBJECTIVE: To explore the practices of obstetrician-gynecologists (ob-gyns) in the United States surrounding postpartum sterilization when the Medicaid consent form was not valid. METHODS: Using the American College of Obstetricians and Gynecologists' online directory, we conducted a qualitative study where we recruited ob-gyns practicing in 10 geographically diverse U.S. states for a qualitative study using semi-structured interviews conducted by telephone. We analyzed interview transcripts using the constant comparative method and principles of grounded theory. RESULTS: Thirty ob-gyns (63% women, 77% nonsubspecialized, and 53% academic setting) were interviewed. Although most physicians stated that they did not perform sterilizations without a valid Medicaid sterilization form, others noted that they sometimes did due to a sense of ethical obligation toward their patient's health, being in a role with more authority or seniority, interpreting the emergency justification section of the form more broadly, or backdating the form. The physicians who said that they never went ahead without a signed form tended to work at large institutions and were concerned with losing funding and engaging in potentially illegal or fraudulent behavior. CONCLUSION: Physicians' varied behaviors related to providing postpartum sterilization without a valid Medicaid consent form demonstrate that the policy is in need of revision. Unclear terminology and ramifications of the Medicaid sterilization policy need to be addressed to ensure equitable care.

Variation by state in Medicaid sterilization policies for physician reimbursement.

OBJECTIVE: To evaluate state-level variation in Medicaid sterilization reimbursement policies for physicians in terms of policy details, flexibility, and review process. STUDY DESIGN: We reviewed state Medicaid websites and interviewed state employees to better understand reimbursement policies and implementation. We attempted to obtain policy details and instructions for physicians from all 50 state Medicaid office websites. We invited employees in all 50 state Medicaid director's offices to participate in semi-structured qualitative interviews. RESULTS: We were able to collect data from 48 states' websites for analysis, conducted 15 telephone interviews, and received 4 written responses from state Medicaid employees. State policies varied greatly in terms of degree of instruction available online to clinicians, number of content-related and logistical changes made compared to the federal policy, type of procedures included, corrections permitted, flexibility in terms of surgeon and procedure changes, review process, reasons for and ramifications of denial, and date of last policy revision. CONCLUSION: There is need for increased transparency and instruction by state Medicaid offices as well as revision of the Medicaid policy to account for the contemporary clinical practice of female permanent contraception. Clinicians should communicate with state Medicaid employees in order to clarify important policy details and obtain greater understanding of their state's review process and ramifications to ensure their clinical practice is both correct and reimbursable. IMPLICATIONS: Greater consistency between states in terms of Medicaid policy and implementation is crucial to ensuring physicians are fairly reimbursed for their work, and female permanent contraception remains an accessible contraceptive method for women.

Attitudes and beliefs of obstetricians-gynecologists regarding Medicaid postpartum sterilization - A qualitative study.

OBJECTIVE: To explore the attitudes and beliefs of obstetrician-gynecologists in the United States (US) regarding the Medicaid postpartum sterilization policy. STUDY DESIGN: We recruited obstetrician-gynecologists practicing in ten geographically diverse US states for a qualitative study using the American College of Obstetricians and Gynecologists directory. We conducted semi-structured interviews via telephone, professionally transcribed, and analyzed using the constant comparative method and principles of grounded theory. RESULTS: We interviewed thirty obstetrician-gynecologists (63.3% women, 76.7% non-subspecialized, and 53.3% academic setting). Participants largely described the consent form as unnecessary, paternalistic, an administrative hassle, a barrier to desired patient care, and associated with worse health outcomes. Views on the waiting period's utility and impact were mixed. Many participants felt the sterilization policy was discriminatory. However, some participants noted the policy's importance in terms of the historical basis, used the form as a counseling tool to remind patients of the permanence of sterilization, felt the policy prompted them to counsel regarding sterilization, and protected patients in contemporary medical practice. CONCLUSION: Many physicians shared concerns about the ethics and clinical impact of the Medicaid sterilization policy. Future revisions to the Medicaid sterilization policy must balance prevention of coercion with reduction in barriers to those desiring sterilization in order to maximize reproductive autonomy. IMPLICATIONS: Obstetrician-gynecologists are key stakeholders of the Medicaid sterilization policy. Obstetrician-gynecologists largely believe that revision to the Medicaid sterilization policy is warranted to balance reduction of external barriers to desired care with a process that enforces the need for counseling regarding contraception and reviewing patient preference for sterilization throughout pregnancy in order to minimize regret.

Perceptions and practice of state Medicaid officials regarding informed consent for female sterilization.

OBJECTIVE: To explore the attitudes, beliefs, and interpretations of individual state Medicaid office employees regarding their state's postpartum sterilization policy and its impact on patient care. STUDY DESIGN: We invited employees in all 50 state Medicaid director's offices who self- or peer-identified as best informed about the sterilization policy to participate in semi-structured qualitative interviews. Using a pilot-tested interview guide, we transcribed, coded, and analyzed each interview. We attempted to obtain supplemental data, including relevant policy details and instructions for physicians in the state, from all 50 state Medicaid office websites. RESULTS: We collected data from 15 telephone interviews, four written responses, and 48 states' websites for analysis. Participants had varying responses regarding the impact of the Medicaid-mandated sterilization consent form in terms of informed consent as well as the utility and ramifications of the waiting period. State policies varied in terms of the age of consent, complexity of the form, availability of translations, use of unclear terminology, and the consent-obtaining process. CONCLUSION: State Medicaid employees have differences in opinions regarding the intent of the Medicaid-mandated sterilization consent form and policies. Better understanding of the variation in individual state policies that may contribute to inequitable access to sterilization is necessary. IMPLICATIONS: Provision of consistent guidelines and widespread coordination of the Medicaid sterilization policies in identified areas impacting informed consent may reduce existing obstacles and provide more equitable access to contraceptive care.

Correction: Experiences and perspectives on the return of secondary findings among genetic epidemiologists.

In the original published version of Table 2 the number of respondents who said "No" to the question "Does your consent form distinguish between targeted and incidental findings?" was indicated as "4." It should have read "44." This has now been corrected in both the PDF and HTML versions of the Article.

Experiences and perspectives on the return of secondary findings among genetic epidemiologists.

PURPOSE: While there has been a recent increase in scholarship around developing policies for the return of results from genetic sequencing, it is not clear whether these approaches are appropriate for genetic epidemiology studies. Because genetic epidemiological research increasingly utilizes genome sequencing methods, particularly in large data sets where researchers did not directly ascertain the subjects, it is important to understand researchers' perspectives on the return of results. METHODS: We conducted an online survey of members of the International Genetic Epidemiology Society to document the diversity of experiences and impressions regarding return of results. The survey contained both closed and open-ended questions. RESULTS: Among our respondents who enroll their own research participants, only 21% return secondary findings. Most respondents do not search their sequence data for clinically actionable findings not associated with their disease of interest. Many feel that genetic epidemiologists have a unique perspective on the return of results and that research studies should not follow the same procedures as clinical sequencing studies. CONCLUSION: Precision medicine initiatives that rely on both clinical and "big data" genomic research should account for variation in researcher perspectives and study design limitations when developing policies and standard practices regarding the return of results.

"A rising tide lifts all boats": establishing a multidisciplinary genomic tumor board for breast cancer patients with advanced disease.

BACKGROUND: Research suggests that multidisciplinary genomic tumor boards (MGTB) can inform cancer patient care, though little is known about factors influencing how MGTBs interpret genomic test results, make recommendations, and perceive the utility of this approach. This study's objective was to observe, describe, and assess the establishment of the Breast Multidisciplinary Genomic Tumor Board, the first MGTB focused on interpreting genomic test results for breast cancer patients with advanced disease. METHODS: We conducted a qualitative case study involving participant observation at monthly MGTB meetings from October 2013 through November 2014 and interviews with 12 MGTB members. We analyzed social dynamics and interactions within the MGTB regarding interpretation of genomic findings and participants' views on effectiveness of the MGTB in using genomics to inform patient care. RESULTS: Twenty-two physicians, physician-scientists, basic scientists, bioethicists, and allied care professionals comprised the MGTB. The MGTB reviewed FoundationOne™ results for 40 metastatic breast cancer patients. Based on findings, the board mostly recommended referring patients to clinical trials (34) and medical genetics (15), and Food and Drug Administration-approved (FDA) breast cancer therapies (13). Though multidisciplinary, recommendations were driven by medical oncologists. Interviewees described providing more precise care recommendations and professional development as advantages and the limited actionability of genomic test results as a challenge for the MGTB. CONCLUSIONS: Findings suggest both feasibility and desirability of pooling professional expertise in genomically-guided breast cancer care and challenges to institutionalizing a Breast MGTB, specifically in promoting interdisciplinary contributions and managing limited actionability of genomic test results for patients with advanced disease.

Are "anti-aging medicine" and "successful aging" two sides of the same coin? Views of anti-aging practitioners.

OBJECTIVES: This article analyzes data from interviews with anti-aging practitioners to evaluate how their descriptions of the work they do, their definitions of aging, and their goals for their patients intersect with gerontological views of "successful aging." METHOD: Semistructured interviews were conducted with a sample of 31 anti-aging practitioners drawn from the directory of the American Academy for Anti-Aging Medicine. RESULTS: Qualitative analysis of the transcripts demonstrate that practitioners' descriptions of their goals, intentionally or unintentionally, mimic the dominant models of "successful aging." These include lowered risk of disease and disability, maintenance of high levels of mental and physical function, and continuing social engagement. Yet, the means and modes of achieving these goals differ markedly between the two groups, as do the messages that each group puts forth in defending their positions. DISCUSSION: Anti-aging practitioners' adoption of the rhetoric of successful aging reflects the success of successful aging models in shaping popular conceptions of what aging is and an ethos of management and control over the aging process. The overlap between anti-aging and successful aging rhetoric also highlights some of the most problematic social, cultural, and economic consequences of efforts made to reconceptualize old age.

US public cord blood banking practices: recruitment, donation, and the timing of consent.

BACKGROUND: Cord blood has moved rapidly from an experimental stem cell source to an accepted and important source of hematopoietic stem cells. There has been no comprehensive assessment of US public cord blood banking practices since the Institute of Medicine study in 2005. STUDY DESIGN AND METHODS: Of 34 US public cord blood banks identified, 16 participated in our qualitative survey of public cord blood banking practices. Participants took part in in-depth telephone interviews in which they were asked structured and open-ended questions regarding recruitment, donation, and the informed consent process at these banks. RESULTS: Thirteen of 16 participants reported a variably high percentage of women who consented to public cord blood donation. Fifteen banks offered donor registration at the time of hospital admission for labor and delivery. Seven obtained full informed consent and medical history during early labor and eight conducted some form of phased consent and/or phased medical screening and history. Nine participants identified initial selection of the collection site location as the chief mode by which they recruited minority donors. CONCLUSION: Since 2005, more public banks offer cord blood donor registration at the time of admission for labor and delivery. That and the targeted location of cord blood collection sites are the main methods used to increase access to donation and HLA diversity of banked units. Currently, the ability to collect and process donations, rather than donor willingness, is the major barrier to public cord blood banking.

IRB perspectives on the return of individual results from genomic research.

PURPOSE: Return of individual research results from genomic studies is a hotly debated ethical issue in genomic research. However, the perspective of key stakeholders-institutional review board (IRB) professionals-has been missing from this dialogue. This study explores the positions and experiences of IRB members and staff regarding this issue. METHODS: In-depth interviews with 31 IRB professionals at six sites across the United States. RESULTS: IRB professionals agreed that research results should be returned to research participants when results are medically actionable but only if the participants want to know the results. Many respondents expected researchers to address the issue of return of results (ROR) in the IRB application and informed-consent document. Many respondents were not comfortable with their expertise in genomics research and only a few described actual experiences in addressing ROR. Although participants agreed that guidelines would be helpful, most were reticent to develop them in isolation. Even where IRB guidance exists (e.g., Clinical Laboratory Improvement Act (CLIA) lab certification required for return), in practice, the guidance has been overruled to allow ROR (e.g., no CLIA lab performs the assay). CONCLUSION: An IRB-researcher partnership is needed to help inform responsible and feasible institutional approaches to returning research results.

From the Lab to the Front Line: How Individual Biogerontologists Navigate their Contested Field.

This paper infuses a new perspective into scholarship on anti-aging science: the experiences of individual scientists as they entered and navigate this controversial field. We draw on in-depth interviews with 43 prominent biogerontologists to accomplish three objectives. First, we highlight key factors that draw scientists into biogerontology-especially the unique and complex puzzles posed by aging. Second, we examine how biogerontologists define themselves and their research in relation to "anti-aging" science-particularly how scientists distance themselves from the tarnished history of the field and employ powerful language to distinguish legitimate from illegitimate scholarship, and science from industry. Finally, we explore how individual scientists manage any social, religious, and ethical objections to conducting "anti-aging" research-and the repertoire of responses they use to simultaneously dismantle objections and reinforce the legitimacy of their science. The analyses reveal how much is ultimately at stake for these individual scientists on the front line.

Anti-aging medicine: can consumers be better protected?

The use of interventions claiming to prevent, retard, or reverse aging is proliferating. Some of these interventions can seriously harm older persons and aging baby boomers who consume them. Others that are merely ineffective may divert patients from participating in beneficial regimens and also cause them economic harm. "Free market regulation" does not seem to weed out risky, ineffective, and fraudulent anti-aging treatments and products. Public health messages, apparently, are having little effect. What more can be done to achieve better protection for older consumers? An analysis of the potential for federal and state action reveals many barriers to effective governmental regulation of anti-aging interventions. In view of dim prospects for stronger public regulation, physicians and other professionals--especially geriatricians and gerontologists--will need to be more aggressive in protecting older consumers. In particular, The Gerontological Society of America and the American Geriatrics Society should undertake a sustained program of specific educational efforts, directed at health professionals and the general public, in which they sort out as best they can the helpful, the harmful, the fraudulent, and the harmless anti-aging practices and products.