Routine HIV testing of hospital patients and pregnant women: informed consent in the real world

The Centers for Disease Control and Prevention (CDC) has recommended that HIV testing be routinely offered to certain patients in hospitals with a high prevalence of HIV infection and on all pregnant women. The CDC does not, however, offer implementation level guidelines for obtaining informed consent. We provide a moral justification for requiring informed consent for HIV testing and propose guidelines for securing such consent. In particular we argue that genuine informed consent can be secured without elaborate counseling, such as that currently used at Counseling and Testing Sites, provided that sufficient written notice is given to the patients before testing and that they are specifically asked for permission.     

Obtaining informed consent for HIV antibody testing: the decision making process

All patients referring themselves for HIV antibody testing must receive pre-test counselling and must give their informed consent before testing can proceed. All patients being referred by their doctors for HIV antibody testing must also receive pre-test counselling and must give their informed consent before testing can proceed, except in very unusual circumstances. This paper is written primarily for medical and nursing staff who are considering referring a patient for testing and it is particularly relevant to those staff working in the field of mental health. This paper draws on professional guidelines and suggests that staff use a two-part decision making process. In the first part die referrer decides whether there are substantial clinical grounds for needing the test result immediately. If there are, the referral is made for pre-test counselling and testing, for example at the local Genito-Urinary Medicine (GU) clinic. In the second part experienced AIDS counsellors try to enable the patient to decide whether or not to proceed. If the patient is not able to understand or make a decision the AIDS counsellors, in consultation with other staff, will decide whether to proceed. Whatever the decision, it should be respected by professional staff.     

Experiences of Women Who Underwent Predictive BRCA 1/2 Mutation Testing Before the Age of 30

This qualitative interview study focuses on the experiences of a sample of British female BRCA 1/2 carriers who had predictive testing before the age of 30, which is the minimum age for breast screening in the UK. Following appropriate informed consent procedures participants were recruited through the Cancer Genetics Service for Wales. Semi-structured interviews were conducted face-to-face with seven participants, transcribed in full and analyzed using thematic analysis. The motives for testing and perceived advantages described by participants were similar to those identified in previous studies with older participants, such as increased awareness and knowledge and feeling more in control. However some of the perceived disadvantages were specific to younger women, including feeling pressured to make important life decisions earlier than they would have liked, such as about family planning and risk reducing surgery. Participants also reported feeling abandoned or forgotten because of lack of ongoing clinical contact, or feeling “stuck waiting” for screening to begin. However, none felt that these disadvantages were a reason to regret having testing. Findings in this small study suggest that having BRCA 1/2 predictive testing can have positive outcomes for young women even though they may be unable to access interventions such as breast screening. However it may be helpful to encourage young women during pre-test counseling to explore the decisions and choices they may face. These young women could benefit from ongoing support and follow up and increased interaction with healthcare professionals.     

Toward a Model Informed Consent Process for BRCA1 Testing: A Qualitative Assessment of Women's Attitudes

As an initial part of a project to develop a model informed consent process for BRCA1 testing, we conducted a series of focus groups. At the groups, women initially expressed great interest in testing, but their interest diminished after learning more. If offered testing, women would most want to learn about test accuracy, practical details of testing, and management options if the result was positive. Perceived benefits of testing included gaining information leading to risk reduction, relief of uncertainty, more responsible parenting, and assisting in research. Perceived risks included the discomfort and cost of the testing process itself, and anxiety after a positive result. The risk of possible insurance discrimination was rarely mentioned spontaneously. Many women would want their providers to make recommendations, rather than be nondirective about testing. We observed that women vary greatly in their informational and counseling needs, and suggest that the informed consent process should be individualized, taking into account a woman's perception and her preferences for how testing decisions should be made.     

The Effects of Enhanced Informed Consent in a Pro-Life Pregnancy Counseling Center

The current study investigated the effects of an enhanced informed consent condition on attitudes toward a counselor, counseling situation, and decision making in a pro-life pregnancy center. The following questions were specifically addressed: (1) Would enhanced informed consent be related to increased pro-abort decisions? and (2) Would enhanced informed consent be related to more positive attitudes toward the counselor and center? Results suggested that enhanced consent did not lead to increased or decreased decisions to abort nor to differential attitudes toward the counselor or counseling setting. Results are discussed in terms of their support for the provision of full informed consent as consistent with both prevailing ethical and legal guidelines.     

Informed Decision-Making in the Context of Prenatal Chromosomal Microarray

The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i.e., chorionic villus sampling or amniocentesis). We employed a questionnaire that was adapted from a three-dimensional measure previously used to assess informed decision-making with respect to prenatal screening for Down syndrome and neural tube defects. This measure classifies an informed decision as one that is knowledgeable, value-consistent, and deliberated. Our questionnaire also included an optional open-ended question, soliciting factors that may have influenced the participants’ decision to accept prenatal CMA; these responses were analyzed qualitatively. Data analysis on 106 participants indicated that 49% made an informed decision (i.e., meeting all three criteria of knowledgeable, deliberated, and value-consistent). Analysis of 59 responses to the open-ended question showed that “the more information the better” emerged as the dominant factor influencing both informed and uninformed participants’ decisions to accept prenatal CMA. Despite learning about the key issues in pre-test genetic counseling, our study classified a significant portion of women as making uninformed decisions due to insufficient knowledge, lack of deliberation, value-inconsistency, or a combination of these three measures. Future efforts should focus on developing educational approaches and counseling strategies to effectively increase the rate of informed decision-making among women offered prenatal CMA.     

Health Behaviors and Psychological Distress in Women Initiating BRCA1/2 Genetic Testing: Comparison with Control Population

The study objective was to compare breast cancer screening practices, lifestyle behaviors and psychological distress among 640 women initiating BRCA1/2 testing to those among 9,498 similarly-aged women from the general population. Health behaviors and psychological distress were reported in a self-administered questionnaire at pre-test genetic counseling. Regression analyses indicate that high-risk women were more frequently performing breast cancer screening and, in the case of those previously diagnosed with cancer, were more likely to be non-smokers and physically active than women from general population. However, women initiating BRCA1/2 testing were significantly more distressed than controls. Globally, high-risk women seemed to be well informed about recommendations for women who are at high risk and to have access to screening adapted to their risk level. Given their significant psychological distress, providing minimal psychosocial support to all women undergoing BRCA1/2 testing at pre-test genetic counseling is relevant.     

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.     

Genetic Counseling Practice in Next Generation Sequencing Research: Implications for the Ethical Oversight of the Informed Consent Process

The potential for next generation sequencing research (NGS) to generate individual genetic results could have implications for the informed consent process and the provision of genetic counseling. We undertook a content analysis of informed consent templates and guidelines produced by Canadian institutional review boards, purposively sampling documents used by researchers to obtain consent from participants in genetics studies. Our goal was to examine the extent to which the informed consent documents addressed genetic counseling and the return of individual genetic results. Our analysis reveals that the majority of informed consent documents did not mention genetic counseling while several did not mention the return of results. We found differences in the ways in which documents addressed availability of counseling, eligibility criteria for referral to a genetic counselor, genetic counselor involvement, provision of services to family members of participants and incidental findings. From an ethical standpoint, consent documents should provide appropriate information so that participants may make an informed decision about their participation in research. The need to ensure adequate counseling for study populations in an NGS research context will necessarily involve adapting values that underlie care in genetic counseling practice. If the interests of research participants are to be truly promoted, the drafting and review of informed consent documents should give proper due to genetic counseling.     

Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

Gaucher disease (GD) is an autosomal recessive disease caused by GBA mutations that is especially common in the Ashkenazi Jewish (AJ) population. The link between GBA mutations and Parkinson disease (PD), a later-onset neurodegenerative condition, is well established, and studies have shown that GBA carriers have an increased lifetime risk of developing PD. Carrier screening for GD is frequently offered to couples during or prior to pregnancy, especially to those of AJ descent. However, no studies have been performed to assess if prospective parents would want to learn about their risk of developing PD incidentally through carrier screening. It is also unknown if pre-test counseling on this topic would affect screening uptake. In order to answer these questions, a survey was administered to individuals who screened negative for GBA mutations. Of the 75 participants, 86.7% believed that patients should be informed about the increased risk of PD prior to having GD carrier screening, and 93.3% responded that this information would not have changed their decision to have carrier screening. These results indicate that healthcare providers should take into consideration patient preferences when determining how to counsel about GD carrier screening. Additionally, these results have implications for genetic counseling about other later-onset conditions that may be incidentally ascertained through carrier screening.     

An ethical evaluation of the 2006 Centers for Disease Control and Prevention Recommendations for HIV testing in health care settings

When in 2006 the Centers for Disease Control and Prevention issued revised recommendations for HIV testing in health care settings, vocal opponents charged that use of an "opt-out" approach to presenting HIV testing to patients; the implementation of nontargeted, widespread HIV screening; the elimination of a separate signed consent; and the decoupling of required HIV prevention counseling from HIV testing are unethical. Here we undertake the first systematic ethical examination of the arguments both for and against the recommendations. Our examination reveals that the ethical concerns raised by the critics predominantly pertain not to ethically suspect elements of the recommendations themselves, but to suspicions that they will be implemented improperly. It has not been shown that the recommendations cannot be implemented properly. Here we show that in the United States the recommendations are morally justifiable and that safeguards or regulatory oversight may serve to ensure that the recommendations are properly implemented.     

An Assessment of Time Involved in Pre-test Case Review and Counseling for a Whole Genome Sequencing Clinical Research Program

Whole genome sequencing (WGS) is being used for evaluation of individuals with undiagnosed disease of suspected genetic origin. Implementing WGS into clinical practice will place an increased burden upon care teams with regard to pre-test patient education and counseling about results. To quantitate the time needed for appropriate pre-test evaluation of participants in WGS testing, we documented the time spent by our clinical research group on various activities related to program preparation, participant screening, and consent prior to WGS. Participants were children or young adults with autism, intellectual or developmental disability, and/or congenital anomalies, who have remained undiagnosed despite previous evaluation, and their biologic parents. Results showed that significant time was spent in securing allocation of clinical research space to counsel participants and families, and in acquisition and review of participant’s medical records. Pre-enrollment chart review identified two individuals with existing diagnoses resulting in savings of $30,000 for the genome sequencing alone, as well as saving hours of personnel time for genome interpretation and communication of WGS results. New WGS programs should plan for costs associated with additional pre-test administrative planning and patient evaluation time that will be required to provide high quality care.     

What do Patients Prefer: Informed Consent Models for Genetic Carrier Testing

The recent increased number of conditions for which patients can undergo genetic carrier testing raises the question of how best to obtain pre-test informed consent. Clinical approaches vary from a minimalist model to a model where patients are given detailed information about all conditions to be screened for. Few data exist as to patient preferences, or how information impacts decision-making. Eight high-literacy focus groups were conducted to assess the knowledge and preferences of pregnant patients and their male partners. Most groups indicated that some balance between details and brevity was optimal, recognizing that anxiety can occur when patients are provided with too much information and that the wide range of tests offered during pregnancy often led to confusion. Critical areas for the informed consent process included (1) details about the conditions and risk of being a carrier, (2) logistics of testing, (3) next steps if the test is positive, and (4) prognosis, options and resources if the child were to be affected with a disorder. It will be useful to develop model consent programs and prospectively assess their impact on informed consent and patient satisfaction, both when positive and negative results are received.     

The effect of nondirective questioning on women's decisions whether to undergo bone density screening: an experimental study.

This study investigated the effects of nondirective counseling on health screening decisions. Ninety women (mean age = 51 years) received information about bone density screening and osteoporosis. They were then randomly allocated to 1 of 4 groups and were encouraged to focus on positive issues about bone density screening (positive group), on negative issues (negative group), on both positive and negative issues (all-focusing group), or on issues relating to the common cold (control group). Women were asked to rate how likely they would be to opt for bone density screening if they saw it available. After being informed that they could have bone density screening, actual uptake was assessed. It was found that the issues on which individuals focused significantly influenced their rate likelihood of opting for the scan. Rated likelihood of testing was significantly associated with whether individuals actually did opt for testing when it was subsequently offered to them.     

Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing

Currently, there are limited data regarding the practice of genetic counseling for whole exome sequencing (WES). Improved understanding of how genetic counselors and other providers are educating, counseling, and communicating results may identify practice trends, and patient or provider needs. Between April 2013 and December 2014, we surveyed providers who ordered WES testing from GeneDx, a CLIA-certified laboratory. Forty-nine respondents completed the survey; 41 % of participants reported board certification in genetic counseling. Pre-test and post-test counseling was completed in all but one case each. Pre-test counseling lasted less than 1 h for 53 % of cases and 1 to 2 h for 43 %. Topics discussed with all patients included consent for testing, and incidental findings; other topics were variable. In contrast to pre-test counseling, 59 % reported post-test counseling lasting 1 to 2 h and 33 % less than an hour; post-testing counseling was significantly longer in cases with a definitive diagnosis than those without (p?=?0.0129). The survey findings indicate some variability regarding the amount of time spent on counseling and the topics discussed during pre-test counseling. Additional exploration, patient and provider educational resources, and potentially more specific guidelines regarding counseling for WES may be warranted.     

Comparison of Informed Consent Preferences for Multiplex Genetic Carrier Screening among a Diverse Population

Multiplex genetic carrier screening is increasingly being integrated into reproductive care. Obtaining informed consent becomes more challenging as the number of screened conditions increases. Implementing a model of generic informed consent may facilitate informed decision-making. Current Wayne State University students and staff were invited to complete a web-based survey by blast email solicitation. Participants were asked to determine which of two generic informed consent scenarios they preferred: a brief versus a detailed consent. They were asked to rank the importance of different informational components in making an informed decision and to provide demographic information. Comparisons between informational preferences, demographic variables and scenario preferences were made. Six hundred ninety three participants completed the survey. When evaluating these generic consents, the majority preferred the more detailed consent (74.5 %), and agreed that it provided enough information to make an informed decision (89.5 %). Those who thought it would be more important to know the severity of the conditions being screened (p?=?.002) and range of symptoms (p?=?.000) were more likely to prefer the more detailed consent. There were no significant associations between scenario preferences and demographic variables. A generic consent was perceived to provide sufficient information for informed decision making regarding multiplex carrier screening with most preferring a more detailed version of the consent. Individual attitudes rather than demographic variables influenced preferences regarding the amount of information that should be included in the generic consent. The findings have implications for how clinicians approach providing tailored informed consent.     

知情同意：从纽伦堡到赫尔辛基

知情同意被视为临床伦理学与研究伦理学的基本原则。大量的文献倡导提高同意的必要条件。据说,同意应当更加明确、具体。经验主义的证据显示,满足任何一方标准是极其困难的,有时是不可能的,因此,这些目标很难行得通。倡导知情同意不实际与不可能的要求,有极小的价值。讨论告知不能作为临床伦理学与研究伦理学的基本标准,知情同意可以最好视为病人与受试者以及其他人所能选择性放弃其他的义务,而不采取侵害性行为的一种方法。它提供了一种调节根本的义务的重要方式,这一义务是由尊重真正执行同意所需要的伦理标准与认识力的双方提供。     

从辅助生殖技术的个案析要论知情同意的完善

结合在人类辅助生殖技术服务过程中发生的案例进行分析,就如何完善知情同意提出了一些见解。认为,医疗技术服务中,知情同意的完善必须注重两个环节,知情同意过程和签署知情同意书。这两个环节必须根据具体情况来进行实施,绝不能敷衍走过场。因此,相关医生对知情同意的认识和伦理监督就显得尤为重要。     

The National Commission on AIDS

A decade after the first cases were recognized in the United States, AIDS continues to vex policymakers and fascinate the public. It has been said that AIDS acts as a prism, refracting a spectrum of controversial topics. For bioethicists, these topics include: equity in the allocation of resources for treatment and research; forgoing life-sustaining care and proxy decision making; informed consent in the context of HIV testing and screening; the ethical duties of health care workers to provide care for persons with HIV disease; and competing obligations of health care professionals to patients and to third parties who may be put at risk.     

Are research participants truly informed? Readability of informed consent forms used in research

Researchers typically attempt to fulfill disclosure and informed consent requirements by having participants read and sign consent forms. The present study evaluated the reading levels of informed consent forms used in psychology research and other fields (medical research; social science and education research; and health, physical education, and recreation research). Two standardized measures of readability were employed to analyze a randomly selected sample (N = 108) of informed consent forms used in Institutional Review Board-approved research projects at a midwestern university during the 1987-1988 academic year. Results indicate that informed consent forms are typically written at a higher reading level than is appropriate for the intended population and that there are no consistently significant differences in readability among areas of research or between college student and noncollege student participants. Due to the unacceptably high reading level of the consent forms, one must question whether participants can comprehend the information contained in the consent form.