Reprogenetics, reproductive risks and cultural awareness: what may we learn from Israeli and Croatian medical students?

BACKGROUND: Past studies emphasized the possible cultural influence on attitudes regarding reprogenetics and reproductive risks among medical students who are taken to be "future physicians." These studies were crafted in order to enhance the knowledge and expand the boundaries of cultural competence. Yet such studies were focused on MS from relatively marginalized cultures, namely either from non-Western developing countries or minority groups in developed countries. The current study sheds light on possible cultural influences of the dominant culture on medical students in two developed countries, potentially with different dominant cultures regarding reprogenetics and reproductive risks: Israel and Croatia. METHODS: Quantitative-statistical analyses were employed, based on anonymous questionnaires completed by 150 first year medical students in Israel and Croatia. The questionnaires pertained to the knowledge and attitudes regarding genetics, reproduction and reproductive risks. These questionnaires were completed before the students were engaged in learning about these topics as part of the curriculum in their medical school. RESULTS: Substantial differences were revealed between the two groups of medical students. Israeli medical students were less tolerant regarding reproductive risks and more knowledgeable about genetics and reproductive risks than Croatian medical students. For example, while nearly all Israeli medical students (96%) disagreed with the idea that "Screening for reproductive risks in prospective parents is wrong," less than 40% of their Croatian counterparts shared a similar stance. Similarly, all (100%) Israeli medical students correctly observed that "A carrier of a recessive genetic disease actually has the disease" was wrong, as opposed to only 82% of Croatian students. CONCLUSIONS: By linking applicable theoretical literature to these findings, we suggest that they may reflect the hidden influence of the dominant culture in each country, disguised as part of the "culture of medicine." Acknowledging and learning about such influence of the dominant culture, may be an important addition to the training of medical students in cultural competence, and specifically their cultural awareness. Such an acknowledgement may also pave the road to drawing the attention of existing physicians regarding a less known yet an important aspect of their cultural competence, insofar as the cultural awareness component is concerned.

Genetic counseling, 2030: An on-demand service tailored to the needs of a price conscious, genetically literate, and busy world.

The practice of genetic counseling is going to be impacted by the public's expectation that goods, services, information, and experiences happen on demand, wherever and whenever people want them. Building from trends that are currently taking shape, this article looks just over a decade into the future-to 2030-to provide a description of how the field of genetics and genetic counseling will be changed, as well as advice for genetic counselors for how to prepare. We build from the prediction that a large portion of the general public will have access to their digitized whole genome sequence anytime, any place, on any device. We focus on five topics downstream of this prediction: public health, personal autonomy, polygenic scores (PGS), evolving clinical practices, and genetic privacy.

Socio-Genomics and Structural Competency.

Adverse developmental exposures and pathologies of the social environment make vastly greater contributions to the leading health burdens in society than currently known genotypic information. Yet, while patients now commonly bring information on single alleles to the attention of their healthcare team, the former conditions are only rarely considered with respect to future health outcomes. This manuscript aims to integrate social environmental influences in genetic predictive models of disease risk. Healthcare providers must be educated to better understand genetic risks for complex diseases and the specific health consequences of societal adversities, to facilitate patient education, disease prevention, and the optimal care in order to achieve positive health outcomes for those with early trauma or other social disadvantage.

Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.

New sequencing methods capable of rapidly analyzing the genome at increasing resolution have transformed diagnosis of single-gene or oligogenic genetic disorders in pediatric and adult medicine. Targeted tests, consisting of disease-focused multigene panels and diagnostic exome sequencing to interrogate the sequence of the coding regions of nearly all genes, are now clinically offered when there is suspicion for an undiagnosed genetic disorder or cancer in children and adults. Implementation of diagnostic exome and genome sequencing tests on invasively and noninvasively obtained fetal DNA samples for prenatal genetic diagnosis is also being explored. We predict that they will become more widely integrated into prenatal care in the near future. Providers must prepare for the practical, ethical, and societal dilemmas that accompany the capacity to generate and analyze large amounts of genetic information about the fetus during pregnancy.

Attitudes of physicians and patients towards disclosure of genetic information to spouse and first-degree relatives: a case study from Turkey.

BACKGROUND: When considering the principle of medical confidentiality, disclosure of genetic information constitutes a special case because of the impact that this information can have on the health and the lives of relatives. The aim of this study is to explore the attitudes of Turkish physicians and patients about sharing information obtained from genetic tests. METHODS: The study was carried out in Kocaeli, Turkey. Participants were either paediatricians and gynaecologists registered in Kocaeli, or patients coming to the genetic diagnosis centre for karyotype analysis in 2008. A self-administered paper questionnaire was given to the physicians, and face-to-face structured interviews were conducted with patients. We used a case study involving a man who was found to be a balanced chromosome carrier as a result of a test conducted after his first baby was born with Down's syndrome. However, he refused to share this information with his wife or his siblings. Percentages of characteristics and preferences of the participants were calculated, and the results were analysed using Kruskal-Wallis test. RESULTS: A total of 155 physicians (68% response rate) and 104 patients (46% response rate) were participated in the study. Twenty-six percent of physicians and 49% of patients believed that genetic information belongs to the whole family. When participants were asked with whom genetic information should be shared for the case study, most of the physicians and patients thought the physician should inform the spouse (79%, 85%, respectively). They were less likely to support a physician informing a sibling (41%, 53%, respectively); whereas, many thought the testee has an obligation to inform siblings (70%, 94%, respectively). CONCLUSIONS: Although Turkey's national regulations certainly protect the right of privacy of the testee, the participants in our study appear to believe that informing the spouse, who is not personally at risk of serious damage, is the physician's responsibility, while informing siblings, is the testee's responsibility. Therefore we believe that opening ethical discussions with clinicians about the sharing of genetic information, establishing guidelines for practice and sharing these guidelines and the reasons behind them with the wider population, will help to pre-empt ethical dilemmas.

Adverse events in cancer genetic testing: medical, ethical, legal, and financial implications.

Cancer genetic counseling and testing are now integral services in progressive cancer care. There has been much debate over whether these services should be delivered by providers with specialized training in genetics or by all clinicians. Adverse outcomes resulting from cancer genetic counseling and testing performed by clinicians without specialization in genetics have been reported, but formal documentation is sparse. In this review, we present a series of national cases illustrating major patterns of errors in cancer genetic counseling and testing and the resulting impact on medical liability, health care costs, and the patients and their families.

Chinese Americans' views of prenatal genetic testing in the genomic era: a qualitative study.

Prenatal genetic testing (PGT) for early and accurate diagnosis of complex genomic diseases and traits, along with relatively rare and severe genetic disorders, is a growing trend in genomic medicine. To address the ethical, legal, and social issues regarding PGT use, the voices of racial/ethnic minorities should be heard. This first-of-its-kind qualitative study examined Chinese Americans' perspectives regarding PGT to diagnose their fetuses for various genetic/genomic diseases and traits. We conducted semi-structural, hypothetical-scenario-based interviews with 49 participants from two major Chinese-American communities in the South. Although approximately one fifth of participants refused to test their fetuses, most tended to favor PGT. The four most frequently identified diseases/traits mentioned by participants included family-history-related diseases, genetic disorders, intelligence quotient (IQ), and psychological/mental disorders. A few respondents, regardless of socio-demographic status, indicated they might terminate their pregnancies if their fetuses carried genes for family-history-related diseases, genetic disorders, low IQ, psychological/mental disorders, and/or physical defects. Participants' attitudes might reflect lack of genetic/genomic knowledge and unawareness of available resources for families with special needs. Moreover, some participants' attitudes appeared related to their cultural beliefs. Our findings represent an initial window to understand Chinese Americans' views regarding PGT. Additional quantitative studies on large samples are needed.

Legislation on direct-to-consumer genetic testing in seven European countries.

An increasing number of private companies are now offering direct-to-consumer (DTC) genetic testing services. Although a lot of attention has been devoted to the regulatory framework of DTC genetic testing services in the USA, only limited information about the regulatory framework in Europe is available. We will report on the situation with regard to the national legislation on DTC genetic testing in seven European countries (Belgium, the Netherlands, Switzerland, Portugal, France, Germany, the United Kingdom). The paper will address whether these countries have legislation that specifically address the issue of DTC genetic testing or have relevant laws that is pertinent to the regulatory control of these services in their countries. The findings show that France, Germany, Portugal and Switzerland have specific legislation that defines that genetic tests can only be carried out by a medical doctor after the provision of sufficient information concerning the nature, meaning and consequences of the genetic test and after the consent of the person concerned. In the Netherlands, some DTC genetic tests could fall under legislation that provides the Minister the right to refuse to provide a license to operate if a test is scientifically unsound, not in accordance with the professional medical practice standards or if the expected benefit is not in balance with the (potential) health risks. Belgium and the United Kingdom allow the provision of DTC genetic tests.

Disability advocacy and reproductive choice: engaging with the expressivist objection.

This professional issues paper outlines the experience and value of engagement with disability advocates, philosophy scholars and bioethicists for spirited debate of issues such as modern eugenics, the expressivist objection and reproductive choice. This process for one group of individuals, undoubtedly prompted deeper examination and questioning of some long held personal and professional views, for all participants. For this author, engagement in the "Disability Rights-Genetic Counseling Interest Group" over a full year resulted in several positive changes in genetic counselling practice as well as the development of meaningful, robust philosophical defence of the dual roles in genetic counseling; advocacy for those with disabilities, and facilitation of a full range of reproductive choices.

The ethical implications of genetic testing in the classroom.

The development of classroom experiments where students examine their own DNA is frequently described as an innovative teaching practice. Often these experiences involve students analyzing their genes for various polymorphisms associated with disease states, like an increased risk for developing cancer. Such experiments can muddy the distinction between classroom investigation and medical testing. Although the goals and issues surrounding classroom genotyping do not directly align with those of clinical testing, instructors can use the guidelines and standards established by the medical genetics community when evaluating the ethics of human genotyping. We developed a laboratory investigation and discussion which allowed undergraduate science students to explore current DNA manipulation techniques to isolate their p53 gene, followed by a dialogue probing the ethical implications of examining their sample for various polymorphisms. Students never conducted genotyping on their samples because of the ethical concerns presented in this paper, so the discussion replaced the actual genetic testing in the class. A science faculty member led the laboratory portion, while a genetic counselor facilitated the discussion of the ethical concepts underlying genetic counseling: autonomy, beneficence, confidentiality, and justice. In their final papers, students demonstrated an understanding of the practice guidelines established by the genetics community and acknowledged the ethical considerations inherent in p53 genotyping. Given the burgeoning market for personalized medicine, teaching undergraduates about the psychosocial and ethical dimensions of human genetic testing is important and timely. Moreover, incorporating a genetic counselor in the classroom discussion provided a rich and dynamic discussion of human genetic testing.

Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms?

The genetic testing of minors within the direct-to-consumer (DTC) genetic testing (GT) context has been given relatively little attention. The issue of testing healthy children for diseases that would only develop in adulthood raises many important ethical, legal and social issues. As genetic testing is now available outside of the traditional health care system, often without even the intermediate of a health care professional, we surveyed 37 DTC GT companies regarding their policies for testing in children. Although the response rate is relatively low (35%, 13/37), our findings reveal that a clear majority of companies do perform genetic testing in minors. As such, companies testing for adult onset diseases are acting in contradiction of established professional guidelines, which state, among others, that, for predictive genetic testing, the availability of therapeutic or preventive measures is necessary for testing to be performed in asymptomatic minors. The community of stakeholders in children's health care and genetic testing should, therefore, decide which standards need to be upheld by DTC GT companies and ensure that these are met.

Genetic testing for neurologic disorders.

New technologies and more research in genetics have revealed an increasing amount of genetic data and identified new diseases. In parallel to the wider availability of genetic testing, efforts have been made to regulate the use of genetic technology and genetic information. The swift pace of developments, not surprisingly, may cause uncertainty among those confronted with genetics. The authors review the current state of genetic testing with a focus on movement disorders. They introduce terminology (inheritance patterns; penetrance; clinical and genetic heterogeneity and types of testing, including influences of direct-to-consumer testing) and discuss general aspects of genetics, including indication for testing, familial implications as well as social, ethical, and in particular legal implications (discrimination acts, insurance aspects, protection of data of deceased, etc.). They also cover recent developments with regard to new molecular techniques, economic issues, and the difficulties of data interpretation.

The establishment of an ethical guideline for genetic testing through citizen consensus via the Internet in Taiwan.

BACKGROUND: With the rapid advance of genetics, the application of genetic testing has become increasingly popular. Test results have had a tremendous impact on individuals who receive the test and his or her family. The ethical, legal, and social implications (ELSI) of genetic testing cannot be overlooked. The Internet is a potential tool for public engagement. OBJECTIVES: This study aimed at establishing ethical guidelines for genetic testing in Taiwan through a participatory citizen consensus approach via the Internet. METHODS: The research method used was a citizen consensus conference modified by an Internet application and the Delphi technique. The citizen consensus conference is one of the public participation mechanisms. The draft ethical guidelines for genetic testing were written by an expert panel of 10. The Delphi technique was applied to a citizen panel recruited via the Internet until a consensus was reached. Our research population was restricted to people who had Internet access. RESULTS: Included in the citizen panel were 100 individuals. A total of 3 individuals dropped out of the process. The citizen panel was exposed to the issues through Internet learning and sharing. In all, 3 rounds of anonymous questionnaires were administered before a consensus was reached in terms of importance and feasibility. The result was ethical guidelines composed of 4 categories and 25 items. The 4 categories encompassed decision making (6 items), management of tissue samples (5 items), release of results (8 items), and information flow (6 items). On a scale of 1 to 10, the average (SD) importance score for the decision-making category was 9.41 (SD 0.58); for the management of tissue samples category, the average score was 9.62 (SD 0.49); for the release of results category, the average score was 9.34 (SD= 0.59); and for the information flow category, the average score was 9.6 (SD = 0.43). Exploratory analyses indicated that participants with higher education tended to attribute more importance to these guidelines. CONCLUSIONS: The resulting recommended ethical guidelines had 4 categories and 25 items. We hope through the implementation of these guidelines that mutual trust can be established between health care profession and the general public with respect to genetic tests.

Direct-to-consumer personal genome testing: ethical and regulatory issues that arise from wanting to 'know' your DNA.

Direct-to-consumer personal genome testing (DTC-PGT) screens a customer's genome for the presence of single nucleotide polymorphisms that are reported to be associated with various diseases, disease risk factors and personal characteristics. The range of health risks covered by personal genome testing (PGT) includes cancer, heart disease, obesity, diabetes mellitus and osteoporosis. PGT also detects a range of other characteristics, such as alcohol 'flush reaction', eye colour, ear wax type and bitter taste perception. Information about ancestry and family history is also available. Although DTC-PGT is still a relatively new enterprise, the technology has the potential for rapid expansion as it becomes more accessible to consumers who wish to obtain information about their genetic profile. This review provides an overview of the broader ethical and regulatory issues raised by personal genome tests that are marketed directly to the public, and that purport to provide information about health risks. We discuss the emergence of DTC-PGT in Australia, and the possible regulatory responses that may be taken to manage it.

Bioethical and clinical dilemmas of direct-to-consumer personal genomic testing: the problem of misattributed equivalence.

A number of for-profit companies now provide personal genomic testing services to clients directly, without input from a physician or other health care provider, and the results of these tests include predictions about a broad spectrum of disease risks and traits. Validated clinical genetic testing and direct-to-consumer (DTC) genomic tests differ substantially in their reliability and usefulness, raising many clinical, ethical, and societal challenges, which are discussed in this Commentary. Of special concern is the problem of misattributed equivalence, which occurs when a patient or physician mistakenly views alternative methods of genetic evaluation as equivalent in their results and analytic rigor. Despite the many challenges raised by DTC genomic testing, we are reminded that commercial interests have sometimes acted as a disruptive force or technology that drives nonconventional approaches to difficult problems.

The dilemma of unintentional discovery of misattributed paternity in living kidney donors and recipients.

PURPOSE OF REVIEW: To discuss the issue of misattributed paternity and highlight the complex implications transplant centers must consider when this unsought information is discovered. Policies should be implemented to guide transplant centers in consistent and ethical treatment of this sensitive issue. Effective policy development will require close examination and transparent discussion by the transplant community. RECENT FINDINGS: Despite the fact that little attention has been given to the discovery of misattributed paternity in the field of transplant, transplant centers do encounter this dilemma. The burden of deciding how to treat the information is significant and reaching consensus can be difficult. Recent findings suggest that policy implementation regarding this issue would help to guide practice for professionals who encounter discovery of this unsought information. SUMMARY: This review explores the complex considerations that must occur when misattributed paternity is unintentionally uncovered in living donor-recipient pairs and recommends that the transplant community pursue policies to guide practice in the treatment of this issue.

Brief assessment of parents' attitudes toward testing minor children for hereditary breast/ovarian cancer genes: development and validation of the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS).

OBJECTIVE: Predictive genetic testing for hereditary breast/ovarian cancer risk (BRCA1/2 testing) is not recommended for minor children due to its lack of immediate medical benefit and potential psychological risk. Yet, tested mothers are often interested in learning about their children's cancer risks via pediatric BRCA1/2 testing, raising a host of bioethical concerns. However, no reliable or valid tool exists to formally gauge parents' interest in such testing. The aim of this study was to develop and evaluate a new measure for use in genetic research and consultation, known as the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS). METHODS: After pretest genetic counseling and provision of a blood sample for BRCA1/2 testing, the P-TAS was administered to 187 mothers of children between 8- and 21-years-old. The measure was also given to 96 of the mothers' nontested co-parents. Analyses of the factor structure and psychometric properties of the measure were performed in mothers and confirmed in their co-parents. RESULTS: The two factors of the P-TAS, labeled Attitudes and Beliefs (Factor 1) and Decision Making and Communication (Factor 2), accounted for 62.9% of the variance and were reliable (Cronbach's coefficient alphas =.70 and .90, respectively); the structure and properties were largely confirmed among co-parents. Validity was indicated through its convergence with related constructs. CONCLUSIONS: This new tool may be integrated into genetic counseling research to better assess parents' attitudes and interests in pediatric BRCA1/2 testing. Such information may help guide ongoing discussions about the appropriateness of testing in adolescent or young adult children.