Treatment decision-making in sickle cell disease patients.

Sickle cell disease (SCD) is a blood disorder with few treatment options currently available. However, in recent years, there has been much progress toward developing new therapies and curative treatments to help patients with SCD. Stem cell transplant remains the only approved curative treatment for SCD, but new clinical trials are being initiated using gene therapy and gene editing. We surveyed patients with sickle cell disease (N=9) about attitudes toward stem cell transplant, gene therapy to add a new healthy gene, gene editing to up-regulate fetal hemoglobin, or gene editing to correct the point mutation. The participants read a fact sheet that included objective information on each curative treatment. When asked which curative treatment each participant would choose, all four options were selected at least once. The most highly selected treatment was gene correction gene editing (N=4). Participants generally agreed that the four treatment options are beneficial but were more mixed in their thoughts on whether the options are dangerous. Reasons for selecting a particular curative treatment were variable, but the most selected reasons were perception of a cure (N=4) or decreased severity (N=4), and not needing a donor (N=4). We are at the beginning stages of understanding how patients with SCD make decisions about curative treatments. Currently, patients may be interested in any of the four possibilities for curative treatments, with gene correction gene editing as the most popular choice. Reasons for choosing one treatment over another are mixed.

Predictors of adverse psychological experiences surrounding genome-wide profiling for disease risk.

This study aimed to identify predictors of adverse psychological experiences among direct-to-consumer (DTC) genomic test consumers. We performed a secondary analysis on data from the Scripps Genomic Health Initiative (SGHI), which studied 2037 individuals tested with commercially available tests yielding personalized risk estimates for 23 common, genetically complex diseases. As part of the original study, the participants completed baseline and follow-up survey measures assessing demographics, personal and family health history, attitudes toward genetic testing, anxiety (State-Trait Anxiety Inventory (STAI)), test-related distress (Impact of Event Scale-Revised (IES-R)), and reactions to receipt of results. To further describe the participants who had an adverse psychological outcome, this secondary analysis defined two different variables ("distress response" and "psychologically sensitive participants") and examined their relationship to various demographic variables and other survey responses. One hundred thirty participants (6.4%) were defined as having a "distress response" to receipt of results based on changes in STAI and/or IES. Four hundred thirty-one participants (21.2%) were defined as being "psychologically sensitive" based on high STAI scores both pre- and post-receipt of results. For psychologically sensitive subjects, younger age emerged as a predictor (p < 0.0005). Family history and personal history were only significant predictors for Alzheimer's disease in the psychologically sensitive participants (p = .03) and restless leg syndrome in those with a distress response (p = .03). Psychologically sensitive participants were more likely to indicate a number of pre-test concerns than were controls, but neither group of participants were any more likely to follow up with their physician or a free genetic counseling service after the return of results.

Best ethical practices for clinicians and laboratories in the provision of noninvasive prenatal testing.

OBJECTIVE: The goal of this study is to provide an ethical framework for clinicians and companies providing noninvasive prenatal testing using cell-free fetal DNA or whole fetal cells. METHOD: In collaboration with a National Institutes of Health-supported research ethics consultation committee together with feedback from an interdisciplinary group of clinicians, members of industry, legal experts, and genetic counselors, we developed a set of best practices for the provision of noninvasive prenatal genetic testing. RESULTS: Principal recommendations include the amendment of current informed consent procedures to include attention to the noninvasive nature of new testing and the potential for a broader range of results earlier in the pregnancy. We strongly recommend that tests should only be provided through licensed medical providers and not directly to consumers. CONCLUSION: Prenatal tests, including new methods using cell-free fetal DNA, are not currently regulated by government agencies, and limited professional guidance is available. In the absence of regulation, companies and clinicians should cooperate to adopt responsible best ethical practices in the provision of these tests.

Attitudes towards Social Networking and Sharing Behaviors among Consumers of Direct-to-Consumer Personal Genomics.

UNLABELLED: Little is known about how consumers of direct-to-consumer personal genetic services share personal genetic risk information. In an age of ubiquitous online networking and rapid development of social networking tools, understanding how consumers share personal genetic risk assessments is critical in the development of appropriate and effective policies. This exploratory study investigates how consumers share personal genetic information and attitudes towards social networking behaviors. METHODS: Adult participants aged 23 to 72 years old who purchased direct-to-consumer genetic testing from a personal genomics company were administered a web-based survey regarding their sharing activities and social networking behaviors related to their personal genetic test results. RESULTS: 80 participants completed the survey; of those, 45% shared results on Facebook and 50.9% reported meeting or reconnecting with more than 10 other individuals through the sharing of their personal genetic information. For help interpreting test results, 70.4% turned to Internet websites and online sources, compared to 22.7% who consulted their healthcare providers. Amongst participants, 51.8% reported that they believe the privacy of their personal genetic information would be breached in the future. CONCLUSION: Consumers actively utilize online social networking tools to help them share and interpret their personal genetic information. These findings suggest a need for careful consideration of policy recommendations in light of the current ambiguity of regulation and oversight of consumer initiated sharing activities.

Assessing the understanding of biobank participants.

Biobanks have been developed as a tool to better understand the genetic basis of disease by linking DNA samples to corresponding medical information. The broad scope of such projects presents a challenge to informed consent and participant understanding. To address this, 200 telephone interviews were conducted with participants in the NUgene Project, Northwestern University's biobank. Interviews included a modified version of the "quality of informed consent measure" (QuIC) and semi-structured questions which were analyzed thematically for 109 of the interviews. The QuIC, originally applied to cancer clinical trials, objectively assessed some of the components of informed consent for a biobank, and interview questions provided rich data to assist in interpreting participant understanding. The best understood domains included: the nature of the study, benefit to future patients, and the voluntary nature of participation. Lower knowledge scores included: potential risks and discomforts, experimental nature of the research, procedures in the event of study-related injury, and confidentiality issues. Qualitatively, confidentiality protections of the study were described as good by most (>50%). Although some cited concerns with employer (12%) or insurance discrimination (25%), most considered the risks to privacy low (25%) or none (approximately 60%). Only 10% of participants explicitly stated they had no expectation for personal benefit, and when asked whether they expected to be contacted with study results, respondents were split between having no expectation (39%), being hopeful for results (37%) and expecting to be contacted with results (12%). These findings are informative to those establishing and implementing biobanks, and to the IRBs reviewing such studies.

Information preferences of high literacy pregnant women regarding informed consent models for genetic carrier screening.

OBJECTIVE: With the increasing carrier screening options being offered to pregnant women, it is critical to consider what information women want in an informed consent process, and how they make decisions regarding screening. METHODS: We surveyed 201 pregnant women. RESULTS: Subjects prefer "to have as much information as possible" (84%), and valued their physician's recommendations (82%) regarding screening. After reviewing two hypothetical scenarios, 71% of participants preferred more information about genetic carrier screening; however, some participants expressed concern that too much information can also lead to anxiety. When specifically asked about components of a potential informed consent process, the highest preferences were to include: the chance of having a child with the disorder (97%), the options for carriers (93%), the value and purpose of testing (91%), and the prognosis if a child has the disease (94%); preference for "symptoms" information differed based on scenario preference (p<0.001). CONCLUSION: This study is the first to document variation in patients' views regarding the information desired as part of the informed consent process. PRACTICE IMPLICATIONS: Providers should consider ways to ascertain their patients' preferred informational style, and how to provide information in the amount and style that patients find useful in making decisions.

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.

Knowledge and attitudes toward a free education and Ashkenazi Jewish carrier testing program.

Carrier testing is offered on the basis of Ashkenazi Jewish background in both the prenatal and preconception settings, with the goal of decreasing the prevalence of affected individuals and allowing informed decision-making during childbearing. The purpose of this study was to (1) document the demographic characteristics of individuals who attended a free education and screening program, (2) learn how the education program changed attendees' knowledge and attitudes by learning more about these disorders, and (3) determine how participants perceived their carrier status risk. One hundred seventy-four individuals completed questionnaires at the beginning and end of an educational program about the Ashkenazi Jewish genetic disorders. There was a statistically significant difference in the participant's level of knowledge from the pre- to post education (p < .001). Females reported a significantly higher level of concern about the disorders (p = .004) and their carrier status (p = .006) before the education, as well as about their carrier status post education (p = .05). Finally, having one or more parent affiliated with Orthodox Judaism was related to higher knowledge before the education program (p = .05). In conclusion, this study demonstrated that an educational carrier screening program increased knowledge about the disorders and also produced mild anxiety regarding personal and reproductive risks.

The impact of genetic technologies on perceptions of disability.

Advances in human genetics will profoundly affect many medical specialties, including obstetrics, genetics, internal medicine, pediatrics and family medicine. Studies show that communication between health care professionals and patients is biased, in part, by the professionals' prior experiences, knowledge, and attitudes toward disability. Little research has been performed to assess these attitudes in the context of genetic disability. The authors present: (1) a brief overview of the development in genetic technologies and disability, (2) a review of the literature around health care provider knowledge and attitudes focusing on disability, (3) a discussion of current disability education in medical curricula, and (4) suggestions for preparing health care providers to deal with issues of genetics and disability.

Recommendations for Telephone Counseling.

Telephone counseling can provide a convenient, accessible, and valuable source of information to the general public, health care providers, and other professionals. In the genetic counseling profession, telephone counseling is often associated with teratogen information services. However, genetic counselors routinely utilize the telephone in a number of different counseling encounters. Nevertheless, the literature provides very little guidance to how that encounter might be conducted, what information should be obtained and provided, or how the encounter should be documented. We present a brief overview of the history of telephone counseling, a description of the major differences between telephone counseling and a face-to-face counseling session, and a framework to optimize a telephone counseling session.

Update and Review: Maternal Serum Screening.

Maternal serum levels of alpha fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3) can be used to screen pregnancies for neural tube defects, Down syndrome, Trisomy 18, and pregnancy complications. This article summarizes the most recent information regarding maternal serum screening, including genetic counseling issues.

Pre-screening education in multiple marker screening programs: The effect on patient anxiety and knowledge.

Previous studies have shown that unexplained deviations in maternal serum multiple marker screening (MMS) generate considerable anxiety during the remainder of pregnancy. While the role of education in decreasing anxiety is documented, to date there has been no prospective evaluation of which educational practices might minimize this emotional stress. In a pilot study, we prospectively examined the effects on anxiety and knowledge by providing information about MMS (1) by genetic counselor, (2) by pamphlet, and (3) by primary physician. Women randomized to one of these three modalities were administered the Spielberger State- Trait Anxiety Inventory [STAI] and knowledge questionnaires at their initial obstetrics visit, at their second visit after educational intervention and 1-2 weeks after MMS results were provided to patients. Education resulted in an increase in knowledge and post-education knowledge was different between educational modalities. Anxiety declined in patients educated through genetic counseling or a pamphlet.