Walker RL, Morrissey C. Bioethics Methods in the Ethical, Legal, and Social Implications of the Human Genome Project Literature. Bioethics. 2013 Jun 24. doi: 10.1111/bioe.12023. [Epub ahead of print]
While bioethics as a field has concerned itself with methodological issues since the early years, there has been no systematic examination of how ethics is incorporated into research on the Ethical, Legal and Social Implications (ELSI)of the Human Genome Project. Yet ELSI research may bear a particular burden of investigating and substantiating its methods given public funding, an explicitly cross-disciplinary approach, and the perceived significance of adequate responsiveness to advances in genomics. We undertook a qualitative content analysis of a sample of ELSI publications appearing between 2003 and 2008 with the aim of better understanding the methods, aims, and approaches to ethics that ELSI researchers employ. We found that the aims of ethics within ELSI are largely prescriptive and address multiple groups. We also found that the bioethics methods used in the ELSI literature are both diverse between publications and multiple within publications, but are usually not themselves discussed or employed as suggested by bioethics method proponents. Ethics in ELSI is also sometimes undistinguished from related inquiries (such as social, legal, or political investigations).
Rigter T, Henneman L, Kristoffersson U, Hall A, Yntema HG, Borry P, Tönnies H, Waisfisz Q, Elting MW, Dondorp WJ, Cornel MC. Reflecting on earlier experiences with unsolicited findings: Points to consider for next generation sequencing and informed consent in diagnostics. Hum Mutat. 2013 Jun 19. doi: 10.1002/humu.22370. [Epub ahead of print]
High-throughput nucleotide sequencing (often referred to as next generation sequencing) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher number of genetic variants, there is a higher chance of detecting unsolicited findings. The consequential increased need for decisions on disclosure of these unsolicited findings poses a challenge for the informed consent procedure. This article discusses the ethical and practical dilemmas encountered when contemplating informed consent for next generation sequencing in diagnostics from a multidisciplinary point of view. By exploring recent similar experiences with unsolicited findings in other settings an attempt is made to describe what can be learned so far for implementing next generation sequencing in standard genetic diagnostics. The article concludes with a set of points to consider in order to guide decision-making on the extent of return of results in relation to the mode of informed consent. We hereby aim to provide a sound basis for developing guidelines for optimizing the informed consent procedure. This article is protected by copyright. All rights reserved.
Stark Z, Delatycki MB. Parentage determination: a medical responsibility? J Med Ethics. 2013 Jun 19. [Epub ahead of print]
Shoenbill K, Fost N, Tachinardi U, Mendonca EA. Genetic data and electronic health records: a discussion of ethical, logistical and technological considerations. J Am Med Inform Assoc. 2013 Jun 14. [Epub ahead of print]
OBJECTIVE: The completion of sequencing the human genome in 2003 has spurred the production and collection of genetic data at ever increasing rates. Genetic data obtained for clinical purposes, as is true for all results of clinical tests, are expected to be included in patients’ medical records. With this explosion of information, questions of what, when, where and how to incorporate genetic data into electronic health records (EHRs) have reached a critical point. In order to answer these questions fully, this paper addresses the ethical, logistical and technological issues involved in incorporating these data into EHRs. MATERIALS AND METHODS: This paper reviews journal articles, government documents and websites relevant to the ethics, genetics and informatics domains as they pertain to EHRs. RESULTS AND DISCUSSION: The authors explore concerns and tasks facing health information technology (HIT) developers at the intersection of ethics, genetics, and technology as applied to EHR development. CONCLUSIONS: By ensuring the efficient and effective incorporation of genetic data into EHRs, HIT developers will play a key role in facilitating the delivery of personalized medicine.
Brenner SE. Be prepared for the big genome leak. Nature. 2013 Jun 13;498(7453):139. doi: 10.1038/498139a.
McCarthy JJ, McLeod HL, Ginsburg GS. Genomic medicine: a decade of successes, challenges, and opportunities. Sci Transl Med. 2013 Jun 12;5(189):189sr4. doi: 10.1126/scitranslmed.3005785.
Genomic medicine-an aspirational term 10 years ago-is gaining momentum across the entire clinical continuum from risk assessment in healthy individuals to genome-guided treatment in patients with complex diseases. We review the latest achievements in genome research and their impact on medicine, primarily in the past decade. In most cases, genomic medicine tools remain in the realm of research, but some tools are crossing over into clinical application, where they have the potential to markedly alter the clinical care of patients. In this State of the Art Review, we highlight notable examples including the use of next-generation sequencing in cancer pharmacogenomics, in the diagnosis of rare disorders, and in the tracking of infectious disease outbreaks. We also discuss progress in dissecting the molecular basis of common diseases, the role of the host microbiome, the identification of drug response biomarkers, and the repurposing of drugs. The significant challenges of implementing genomic medicine are examined, along with the innovative solutions being sought. These challenges include the difficulty in establishing clinical validity and utility of tests, how to increase awareness and promote their uptake by clinicians, a changing regulatory and coverage landscape, the need for education, and addressing the ethical aspects of genomics for patients and society. Finally, we consider the future of genomics in medicine and offer a glimpse of the forces shaping genomic medicine, such as fundamental shifts in how we define disease, how medicine is delivered to patients, and how consumers are managing their own health and affecting change.
Chan TK, Hui E, Chung B. A child born with Edward’s syndrome: the legal and moral duty to accede to the request for parentage determination. J Med Ethics. 2013 Jun 11. [Epub ahead of print]
Advances in medical technology inevitably bring about different kinds of ethical challenges for practising doctors. The following hypothetical case of assisted reproduction is presented as an example. A boy is born with Edward’s syndrome following assisted reproduction. The parents suspect that there has been an error of embryo mix-up. They challenge the parenthood and request a genetic test to determine the biological parentage of the neonate. Should the attending paediatrician in this case accede to the request? We argue that the paediatrician has no legal obligation to offer the test, although it might be lawful and ethical to provide the test subject to the outcome of our proposed three-step risk assessment.
Wånggren K, Alden J, Bergh T, Skoog Svanberg A. Attitudes towards embryo donation among infertile couples with frozen embryos. Hum Reprod. 2013 Jun 11. [Epub ahead of print]
STUDY QUESTION: What are the attitudes towards different aspects of embryo donation among Swedish infertile couples who have surplus cryopreserved embryos? SUMMARY ANSWER: Nearly three-quarters of infertile couples with surplus embryos were in favour of embryo donation. A majority of respondents were also in favour of embryos being donated for research. WHAT IS KNOWN ALREADY: Currently, embryo donation to other infertile couples is prohibited by law in Sweden. Encouraging results have been published from countries allowing embryo donation, although it is a complex procedure associated with many emotional, ethical, legal and psychosocial aspects. STUDY DESIGN, SIZE, DURATION: This cross-sectional study included 471 infertile couples (942 patients) treated during the period March 2006 to March 2009. PARTICIPANTS/MATERIALS, SETTING, METHODS: Infertile couples who had been treated at a Swedish university-based hospital and private IVF clinic and who had cryopreserved embryos were sent questionnaires with questions regarding socio-demographic data and their attitudes towards embryo donation. MAIN RESULTS AND THE ROLE OF CHANCE: The response rate to the questionnaire was 58%. Of the respondents, 76% supported the donation of surplus embryos to other infertile couples, but there were divided opinions regarding the disclosure of the genetic parents’ identities. Close to 60% of the participants indicated that donations of embryos should be allowed for research and about 45% of the participants approved donations of embryos to single women. LIMITATIONS, REASONS FOR CAUTION: The relatively low response rate and the hypothetical nature of the questions may limit the validity of the results. WIDER IMPLICATIONS OF THE FINDINGS: The results from the study indicate that cryopreserved embryos may be available for donation to other infertile couples, particularly where restrictions can be set on recipient characteristics. STUDY FUNDING/COMPETING INTEREST(S): The study was supported by Uppsala University. No competing interest exists.
Giesbertz NA, Bredenoord AL, van Delden JJ. Clarifying assent in pediatric research. Eur J Hum Genet. 2013 Jun 12. doi: 10.1038/ejhg.2013.119. [Epub ahead of print]
Assent is a relatively young term in research ethics, but became an often mentioned ethical requirement in current pediatric research guidelines. Also, the European Society of Human Genetics considers assent an important condition for the inclusion of children in biobanks. However, although many emphasize the importance of assent, few explain how they understand the concept and few have elaborated on the underlying grounds. In this paper, we will discuss the different underlying ethical principles of assent. In the first category, assent appears to be derived from informed consent. This understanding is grounded in respect for autonomy and protection against harm. We conclude that this interpretation of assent is not of added value as a majority of children cannot be considered competent to make autonomous decisions. In addition, other safeguards are more appropriate to protect children against harm. The grounds from the second category can be classified as engagement grounds. These grounds do justice to the specifics of childhood and are of added value. Furthermore, we argue that it follows that both the content and the process of assent should be adjusted to the individual child. This can be referred to as personalized assent. Personalized assent is an appeal to the moral responsibility and integrity of the researcher. European Journal of Human Genetics advance online publication, 12 June 2013; doi:10.1038/ejhg.2013.119.
Boniolo G. Is an account of identity necessary for bioethics? What post-genomic biomedicine can teach us. Stud Hist Philos Biol Biomed Sci. 2013 Jun 7. pii: S1369-8486(13)00070-8. doi:10.1016/j.shpsc.2013.05.002. [Epub ahead of print]
Is a theory of identity necessary for bioethics? In this paper I investigate that question starting from an empirical explication of identity based on post-genomics, in particular on epigenetics. After analysing whether the classic problems a theory of identity has to cope with (fictional transplants; conjoined twins; and definition of death) also affect the proposed epigenetic account of identity, I deal with three topics (the assumption of moral responsibility; decision maintenance in the case of advance directives; and the attribution of value to human beings at given developmental stages) to offer an insight on the relationship between that account and bioethics.
Hibino Y, Shimazono Y, Kambayashi Y, Hitomi Y, Nakamura H. Attitudes towards cross-border reproductive care among infertile Japanese patients. Environ Health Prev Med. 2013 Jun 9. [Epub ahead of print]
OBJECTIVES: The attitudes towards cross-border reproductive care (CBRC) held by infertile Japanese patients have not been explored. The objective of the present study was to examine interest levels, preferred destinations, motivations, and sources of information related to CBRC. Our findings provide a general outline of CBRC and the future of reproduction and assisted reproductive technology (ART) in Japan. METHODS: The study used a cross-sectional design. Data were collected from 2,007 infertile Japanese patients from 65 accredited ART clinics in Japan (response rate, 27.4 %) via anonymous questionnaires. RESULTS: Most of the infertile Japanese patients who responded denied using CBRC. However, by group, 171 (8.5 %) patients in non-donor in vitro fertilization, 150 (7.5 %) in egg donation, 145 (7.2 %) in pre-implantation genetic diagnosis, and 129 (6.4 %) in surrogacy said that, depending on the situation, they might travel abroad in the future. Older respondents were more likely to express an intention to travel overseas for egg donation in the future. The most popular destination for CBRC was the United States. Popular reasons for interest in CBRC among those considering or planning using this approach to third-party reproduction were that egg donation or surrogacy was unavailable or that obtaining ethical approval takes too long in Japan, whereas these processes are legal and affordable overseas. However, high cost was the most common reason for hesitancy regarding CBRC. Among the participants who were considering or planning to travel abroad for this purpose, TV, medical agencies, print media, and message boards on websites were popular sources of information, whereas doctors, friends, and patient self-help groups were not. CONCLUSIONS: Although CBRC among infertile Japanese patients is not at present common, the demand for and use of this approach may increase in the future in the context of the increasingly aging population. Lack of regulation and unavailability of third-party reproduction is a major cause of CBRC among Japanese patients. Health care provider faces an urgent need for giving useful information for patients regarding CBRC.
Goldenberg AJ, Dodson DS, Davis MM, Tarini BA. Parents’ interest in whole-genome sequencing of newborns. Genet Med. 2013 Jun 6. doi: 10.1038/gim.2013.76. [Epub ahead of print]
Purpose: The aim of this study was to assess parents’ interest in whole-genome sequencing for newborns. Methods: We conducted a survey of a nationally representative sample of 1,539 parents about their interest in whole-genome sequencing of newborns. Participants were randomly presented with one of two scenarios that differed in the venue of testing: one offered whole-genome sequencing through a state newborn screening program, whereas the other offered whole-genome sequencing in a pediatrician’s office. Results: Overall interest in having future newborns undergo whole-genome sequencing was generally high among parents. If whole-genome sequencing were offered through a state’s newborn-screening program, 74% of parents were either definitely or somewhat interested in utilizing this technology. If offered in a pediatrician’s office 70% of parents were either definitely or somewhat interested. Parents in both groups most frequently identified test accuracy and the ability to prevent a child from developing a disease as “very important” in making a decision to have a newborn’s whole genome sequenced. Conclusion: These data may help health departments and children’s health-care providers anticipate parents’ level of interest in genomic screening for newborns. As whole-genome sequencing is integrated into clinical and public health services, these findings may inform the development of educational strategies and outreach messages for parents. Genet Med advance online publication 6 June 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.76.
Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, Sanderson SC, Kannry J, Zinberg R, Basford MA, Brilliant M, Carey DJ, Chisholm RL, Chute CG, Connolly JJ, Crosslin D, Denny JC, Gallego CJ, Haines JL, Hakonarson H, Harley J, Jarvik GP, Kohane I, Kullo IJ, Larson EB, McCarty C, Ritchie MD, Roden DM, Smith ME, Böttinger EP, Williams MS. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med. 2013 Jun 6. doi: 10.1038/gim.2013.72. [Epub ahead of print]
The Electronic Medical Records and Genomics Network is a National Human Genome Research Institute-funded consortium engaged in the development of methods and best practices for using the electronic medical record as a tool for genomic research. Now in its sixth year and second funding cycle, and comprising nine research groups and a coordinating center, the network has played a major role in validating the concept that clinical data derived from electronic medical records can be used successfully for genomic research. Current work is advancing knowledge in multiple disciplines at the intersection of genomics and health-care informatics, particularly for electronic phenotyping, genome-wide association studies, genomic medicine implementation, and the ethical and regulatory issues associated with genomics research and returning results to study participants. Here, we describe the evolution, accomplishments, opportunities, and challenges of the network from its inception as a five-group consortium focused on genotype-phenotype associations for genomic discovery to its current form as a nine-group consortium pivoting toward the implementation of genomic medicine. Genet Med advance online publication 6 June 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.72.
Callaway E. Glowing plants spark debate. Nature. 2013 Jun 6;498(7452):15-6. doi: 10.1038/498015a.
Boss RD, Holmes KW, Althaus J, Rushton CH, McNee H, McNee T. Trisomy 18 and Complex Congenital Heart Disease: Seeking the Threshold Benefit. Pediatrics. 2013 Jun 3. [Epub ahead of print]
A prenatal diagnosis of ductal-dependent, complex congenital heart disease was made in a fetus with trisomy 18. The parents requested that the genetic diagnosis be excluded from all medical and surgical decision-making and that all life-prolonging therapies be made available to their infant. There was conflict among the medical team about what threshold of neonatal benefit could outweigh maternal and neonatal treatment burdens. A prenatal ethics consultation was requested.
Mathieu G, Groisman IJ, Godard B. Next generation sequencing in psychiatric research: what study participants need to know about research findings. Int J Neuropsychopharmacol. 2013 Jun 3:1-9. [Epub ahead of print]
The use of next generation sequencing (NGS) technologies in psychiatric genetics research and its potential to generate individual research results will likely have far reaching implications for predictive and diagnostic practices. The extent of this impact may not be easily understood by psychiatric research participants during the consent process. The traditional consent process for studies involving human subjects does not address critical issues specific to NGS research, such as the return of results. We examined which type of research findings should be communicated, how this information should be conveyed during the consent process and what guidance is required by researchers and IRBs to help psychiatric research participants understand the peculiarities, the limits and the impact of NGS. Strong standards are needed to ensure appropriate use of data generated by NGS, to meet participants’ expectations and needs, and to clarify researchers’ duties regarding the disclosure of data and their subsequent management. In the short term, researchers and IRBs need to be proactive in revising current consent processes that deal with the disclosure of research findings.