Genethics article update: August 2014
Summer is almost over, and the new academic year about to begin. Never mind, enjoy the latest offerings as a last taste of summer! As always, the presentation of an article is neither and implicit or explicit reflection of our views on quality nor is it an endorsement of a particular view.
Stuart
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Daly BJ, Rosko A, Zhang S, Lazarus HM. The Devil is in the Details: Confidentiality Challenges in the Age of Genetics. HEC Forum. 2014 Aug 2. [Epub ahead of print]
This clinical case report illustrates the potential dilemmas that can arise from knowledge gained through genetic analysis. These conflicts require careful ethical analysis of presumed duties to protect patient privacy and maintain confidentiality, the duty to warn a second party of a health risk, and the duty of veracity. While the questions raised by genetic testing of one individual for disease that reveals potentially important information about relatives, such as risk for Huntington chorea or breast cancer, have been discussed, the continuing expansion in our capacity for sophisticated genetic analysis continues to present new and challenging situations. The resolution of this case and others like it requires close collaboration among the treatment team, geneticists, and clinical ethicists.
This clinical case report illustrates the potential dilemmas that can arise from knowledge gained through genetic analysis. These conflicts require careful ethical analysis of presumed duties to protect patient privacy and maintain confidentiality, the duty to warn a second party of a health risk, and the duty of veracity. While the questions raised by genetic testing of one individual for disease that reveals potentially important information about relatives, such as risk for Huntington chorea or breast cancer, have been discussed, the continuing expansion in our capacity for sophisticated genetic analysis continues to present new and challenging situations. The resolution of this case and others like it requires close collaboration among the treatment team, geneticists, and clinical ethicists.
Overall C. Reproductive ‘Surrogacy’ and Parental Licensing. Bioethics. 2014 Aug 1. doi: 10.1111/bioe.12107. [Epub ahead of print]
A serious moral weakness of reproductive ‘surrogacy’ is that it can be harmful to the children who are created. This article presents a proposal for mitigating this weakness. Currently, the practice of commercial ‘surrogacy’ operates only in the interests of the adults involved (the gestator and the commissioning individuals who employ her), not in the interests of the child who is created. Whether ‘surrogacy’ is seen as the purchase of a baby, the purchase of parental rights, or the purchase of reproductive labor, all three views share the same significant flaws. They endorse the transfer, for a fee, of the infant from the woman who gestated it to those who commissioned it, but without justifying such a transfer; they fail to demonstrate that the commissioners have any entitlement to the infant, or, for that matter, suitability to be the infant’s parents; and they fail to take any notice of the infant’s needs, interests, and wellbeing. A mere genetic connection is not enough to establish that the commissioners are entitled to receive the baby or that they are competent to raise it. Their good intentions, however caring, are not enough. Therefore, just as in the practice of adoption, there should be a formal institutionalized system for screening and licensing the prospective social parents, which would make the infant’s needs, interests, and wellbeing paramount. I reply to several potential objections to this proposal, including the objection that genetic parents who raise their own child are not screened and licensed.
A serious moral weakness of reproductive ‘surrogacy’ is that it can be harmful to the children who are created. This article presents a proposal for mitigating this weakness. Currently, the practice of commercial ‘surrogacy’ operates only in the interests of the adults involved (the gestator and the commissioning individuals who employ her), not in the interests of the child who is created. Whether ‘surrogacy’ is seen as the purchase of a baby, the purchase of parental rights, or the purchase of reproductive labor, all three views share the same significant flaws. They endorse the transfer, for a fee, of the infant from the woman who gestated it to those who commissioned it, but without justifying such a transfer; they fail to demonstrate that the commissioners have any entitlement to the infant, or, for that matter, suitability to be the infant’s parents; and they fail to take any notice of the infant’s needs, interests, and wellbeing. A mere genetic connection is not enough to establish that the commissioners are entitled to receive the baby or that they are competent to raise it. Their good intentions, however caring, are not enough. Therefore, just as in the practice of adoption, there should be a formal institutionalized system for screening and licensing the prospective social parents, which would make the infant’s needs, interests, and wellbeing paramount. I reply to several potential objections to this proposal, including the objection that genetic parents who raise their own child are not screened and licensed.
Jafri H, Hewison J, Sheridan E, Ahmed S. Acceptability of prenatal testing and termination of pregnancy in Pakistan. J Community Genet. 2014 Aug 1. [Epub ahead of print]
This study aimed to assess acceptability of prenatal testing (PNT) and termination of pregnancy (TOP) for a range of conditions in Pakistani parents with and without a child with a genetic condition. A structured questionnaire assessing acceptability of PNT and TOP for 30 conditions was completed by 400 Pakistani participants: 200 parents with a child with a genetic condition (100 fathers and 100 mothers) and 200 parents without an affected child (100 fathers and 100 mothers). There was a high level of interest in PNT, where over 80 % of parents in all four study groups would want PNT for the majority of the conditions. There was comparatively less interest in TOP for the same conditions (ranging from 5 to 70 % of parents, with mothers of an affected child being most interested). Parents were most likely to be interested in TOP for conditions at the serious end of the continuum. More than half of the participants in each group would consider TOP for anencephaly and quadriplegia. The interest in PNT and TOP for a range of conditions suggests that rapidly developing PNT technologies are likely to be acceptable in Pakistan, a low-middle income level and Muslim country. The comparatively lower level of interest in TOP for the same conditions highlights ethical dilemmas that such technologies are likely to raise.
This study aimed to assess acceptability of prenatal testing (PNT) and termination of pregnancy (TOP) for a range of conditions in Pakistani parents with and without a child with a genetic condition. A structured questionnaire assessing acceptability of PNT and TOP for 30 conditions was completed by 400 Pakistani participants: 200 parents with a child with a genetic condition (100 fathers and 100 mothers) and 200 parents without an affected child (100 fathers and 100 mothers). There was a high level of interest in PNT, where over 80 % of parents in all four study groups would want PNT for the majority of the conditions. There was comparatively less interest in TOP for the same conditions (ranging from 5 to 70 % of parents, with mothers of an affected child being most interested). Parents were most likely to be interested in TOP for conditions at the serious end of the continuum. More than half of the participants in each group would consider TOP for anencephaly and quadriplegia. The interest in PNT and TOP for a range of conditions suggests that rapidly developing PNT technologies are likely to be acceptable in Pakistan, a low-middle income level and Muslim country. The comparatively lower level of interest in TOP for the same conditions highlights ethical dilemmas that such technologies are likely to raise.
Solomon S, Mongoven A. Extending the Surrogacy Analogy: Applying the Advance Directive Model to Biobanks. Public Health Genomics. 2014 Jul 25. [Epub ahead of print]
Biobank donors and biobank governance face a conceptual challenge akin to clinical patients and their designated surrogate decision-makers, the necessity of making decisions and policies now that must be implemented under future unknown circumstances. We propose that biobanks take advantage of this parallel to learn lessons from the historical trajectory of advance directives and develop models analogous to current ‘best practice’ advance directives such as Values Histories and TheFive Wishes. We suggest how such models could improve biobanks’ engagement both with communities and with individual donors by being more honest about the limits of current disclosure and eliciting information to ensure the protection of donor interests more robustly through time than current ‘informed consent’ processes in biobanking.
Biobank donors and biobank governance face a conceptual challenge akin to clinical patients and their designated surrogate decision-makers, the necessity of making decisions and policies now that must be implemented under future unknown circumstances. We propose that biobanks take advantage of this parallel to learn lessons from the historical trajectory of advance directives and develop models analogous to current ‘best practice’ advance directives such as Values Histories and TheFive Wishes. We suggest how such models could improve biobanks’ engagement both with communities and with individual donors by being more honest about the limits of current disclosure and eliciting information to ensure the protection of donor interests more robustly through time than current ‘informed consent’ processes in biobanking.
Caulfield T, Zarzeczny A. Defining ‘medical necessity’ in an age of personalised medicine: A view from Canada. Bioessays. 2014 Jul 24. doi: 10.1002/bies.201400073.
The concept of medical necessity plays a central role in many healthcare systems, including Canada’s, by helping determine which healthcare services will receive funding. Despite its significance in health policy frameworks, medical necessity has proven to be notoriously difficult to define and operationalise. A shift toward a more personalised and genetically-informed approach to the provision of healthcare seems likely to heighten associated policy challenges. One of the stated goals of personalised medicine is to save healthcare systems money by facilitating the use of less and more effective treatments. However, any cost saving potential may ultimately be thwarted by physicians’ legal and ethical obligations, given that physicians will inevitably be required to implement and define the bounds of genetically-informed medical necessity for their patients.
The concept of medical necessity plays a central role in many healthcare systems, including Canada’s, by helping determine which healthcare services will receive funding. Despite its significance in health policy frameworks, medical necessity has proven to be notoriously difficult to define and operationalise. A shift toward a more personalised and genetically-informed approach to the provision of healthcare seems likely to heighten associated policy challenges. One of the stated goals of personalised medicine is to save healthcare systems money by facilitating the use of less and more effective treatments. However, any cost saving potential may ultimately be thwarted by physicians’ legal and ethical obligations, given that physicians will inevitably be required to implement and define the bounds of genetically-informed medical necessity for their patients.
Lucassen A, Houlston RS. The challenges of genome analysis in the health care setting. Genes (Basel). 2014 Jul 22;5(3):576-85. doi: 10.3390/genes5030576.
Genome sequencing is now a sufficiently mature and affordable technology for clinical use. Its application promises not only to transform clinicians’ diagnostic and predictive ability, but also to improve preventative therapies, surveillance regimes, and tailor patient treatment to an individual’s genetic make-up. However, as with any technological advance, there are associated fresh challenges. While some of the ethical, legal and social aspects resulting from the generation of data from genome sequencing are generic, several nuances are unique. Since the UK government recently announced plans to sequence the genomes of 100,000 Health Service patients, and similar initiatives are being considered elsewhere, a discussion of these nuances is timely and needs to go hand in hand with formulation of guidelines and public engagement activities around implementation of sequencing in clinical practice.
Genome sequencing is now a sufficiently mature and affordable technology for clinical use. Its application promises not only to transform clinicians’ diagnostic and predictive ability, but also to improve preventative therapies, surveillance regimes, and tailor patient treatment to an individual’s genetic make-up. However, as with any technological advance, there are associated fresh challenges. While some of the ethical, legal and social aspects resulting from the generation of data from genome sequencing are generic, several nuances are unique. Since the UK government recently announced plans to sequence the genomes of 100,000 Health Service patients, and similar initiatives are being considered elsewhere, a discussion of these nuances is timely and needs to go hand in hand with formulation of guidelines and public engagement activities around implementation of sequencing in clinical practice.
Joly Y, Saulnier KM, Osien G, Knoppers BM. The ethical framing of personalized medicine. Curr Opin Allergy Clin Immunol. 2014 Jul 21. [Epub ahead of print]
PURPOSE OF REVIEW: Personalized medicine encompasses the use of biological information such as genomics to provide tailored interventions for patients. The review explores the ethical, legal, and social issues that have emerged with personalized medicine and must be considered because of the complex nature of providing individualized care within a clinical setting. RECENT FINDINGS: Recent studies found that the use of personalized medicine presents challenges in multiple areas: biobanking and informed consent, confidentiality, genetic discrimination, return of results, access to treatment, clinical translation, direct-to-consumer genetic testing, emerging duties, and knowledge mobilization.
SUMMARY: Although personalized medicine provides benefits in treating patients in a manner that is more suited to their genetic profile, there are challenges that must be discussed to ensure the protection and fair treatment of individuals. The issues concerning personalized medicine are widespread, and range from individual privacy to the stratification and discrimination of sub-populations based on ethnicity. These issues have considerable impact on the individual and society. A thorough exploration of these ethical issues may identify novel challenges as well as potential avenues for resolution.
PURPOSE OF REVIEW: Personalized medicine encompasses the use of biological information such as genomics to provide tailored interventions for patients. The review explores the ethical, legal, and social issues that have emerged with personalized medicine and must be considered because of the complex nature of providing individualized care within a clinical setting. RECENT FINDINGS: Recent studies found that the use of personalized medicine presents challenges in multiple areas: biobanking and informed consent, confidentiality, genetic discrimination, return of results, access to treatment, clinical translation, direct-to-consumer genetic testing, emerging duties, and knowledge mobilization.
SUMMARY: Although personalized medicine provides benefits in treating patients in a manner that is more suited to their genetic profile, there are challenges that must be discussed to ensure the protection and fair treatment of individuals. The issues concerning personalized medicine are widespread, and range from individual privacy to the stratification and discrimination of sub-populations based on ethnicity. These issues have considerable impact on the individual and society. A thorough exploration of these ethical issues may identify novel challenges as well as potential avenues for resolution.
Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg DG, Haidar H, Rousseau F. Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma. Appl Clin Genet. 2014 Jul 7;7:127-31. doi: 10.2147/TACG.S35602. eCollection 2014.
Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype), which is associated with a risk of fetal miscarriage. Recently, genomics-based NIPT (gNIPT) was proposed for the analysis of fetal genomic DNA circulating in maternal blood. The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures. However, the limitations of gNIPT may be underappreciated. In this review, we examine currently published literature on gNIPT to highlight advantages and limitations. At this time, the performance of gNIPT is relatively well-documented only in high-risk pregnancies for T21 and trisomy 18. This additional screening test may be an option for women classified as high-risk of aneuploidy who wish to avoid invasive diagnostic tests, but it is crucial that providers carefully counsel patients about the test’s advantages and limitations. The gNIPT is currently not recommended as a first-tier prenatal screening test for T21. Since gNIPT is not considered as a diagnostic test, a positive gNIPT result should always be confirmed by an invasive test, such as amniocentesis or chorionic villus sampling. Validation studies are needed to optimally introduce this technology into the existing routine workflow of prenatal care.
Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype), which is associated with a risk of fetal miscarriage. Recently, genomics-based NIPT (gNIPT) was proposed for the analysis of fetal genomic DNA circulating in maternal blood. The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures. However, the limitations of gNIPT may be underappreciated. In this review, we examine currently published literature on gNIPT to highlight advantages and limitations. At this time, the performance of gNIPT is relatively well-documented only in high-risk pregnancies for T21 and trisomy 18. This additional screening test may be an option for women classified as high-risk of aneuploidy who wish to avoid invasive diagnostic tests, but it is crucial that providers carefully counsel patients about the test’s advantages and limitations. The gNIPT is currently not recommended as a first-tier prenatal screening test for T21. Since gNIPT is not considered as a diagnostic test, a positive gNIPT result should always be confirmed by an invasive test, such as amniocentesis or chorionic villus sampling. Validation studies are needed to optimally introduce this technology into the existing routine workflow of prenatal care.
Lohmann K, Klein C. Next Generation Sequencing and the Future of Genetic Diagnosis. Neurotherapeutics. 2014 Jul 23. [Epub ahead of print]
The introduction of next generation sequencing (NGS) has led to an exponential increase of elucidated genetic causes in both extremely rare diseases and common but heterogeneous disorders. It can be applied to the whole or to selected parts of the genome (genome or exome sequencing, gene panels). NGS is not only useful in large extended families with linkage information, but may also be applied to detect de novo mutations or mosaicism in sporadic patients without a prior hypothesis about the mutated gene. Currently, NGS is applied in both research and clinical settings, and there is a rapid transition of research findings to diagnostic applications. These developments may greatly help to minimize the “diagnostic odyssey” for patients as whole-genome analysis can be performed in a few days at reasonable costs compared with gene-by-gene analysis based on Sanger sequencing following diverse clinical tests. Despite the enthusiasm about NGS, one has to keep in mind its limitations, such as a coverage and accuracy of < 100 %, resulting in missing variants and false positive findings. In addition, variant interpretation is challenging as there is usually more than one candidate variant found. Therefore, there is an urgent need to define standards for NGS with respect to run quality and variant interpretation, as well as mechanisms of quality control. Further, there are ethical challenges including incidental findings and how to guide unaffected probands seeking direct-to-customer testing. However, taken together, the application of NGS in research and diagnostics provides a tremendous opportunity to better serve our patients.
The introduction of next generation sequencing (NGS) has led to an exponential increase of elucidated genetic causes in both extremely rare diseases and common but heterogeneous disorders. It can be applied to the whole or to selected parts of the genome (genome or exome sequencing, gene panels). NGS is not only useful in large extended families with linkage information, but may also be applied to detect de novo mutations or mosaicism in sporadic patients without a prior hypothesis about the mutated gene. Currently, NGS is applied in both research and clinical settings, and there is a rapid transition of research findings to diagnostic applications. These developments may greatly help to minimize the “diagnostic odyssey” for patients as whole-genome analysis can be performed in a few days at reasonable costs compared with gene-by-gene analysis based on Sanger sequencing following diverse clinical tests. Despite the enthusiasm about NGS, one has to keep in mind its limitations, such as a coverage and accuracy of < 100 %, resulting in missing variants and false positive findings. In addition, variant interpretation is challenging as there is usually more than one candidate variant found. Therefore, there is an urgent need to define standards for NGS with respect to run quality and variant interpretation, as well as mechanisms of quality control. Further, there are ethical challenges including incidental findings and how to guide unaffected probands seeking direct-to-customer testing. However, taken together, the application of NGS in research and diagnostics provides a tremendous opportunity to better serve our patients.
Anderson JA, Hayeems R, Shuman C, Szego MJ, Monfared N, Bowdin S, Zlotnik Shaul R, Meyn MS. Predictive Genetic Testing for Adult-Onset Disorders in Minors: A Critical Analysis of the Arguments For and Against the 2013 ACMG guidelines. Clin Genet. 2014 Jul 21. doi: 10.1111/cge.12460. [Epub ahead of print]
The publication of the ACMG recommendations has reignited the debate over predictive testing for adult-onset disorders in minors. Response has been polarized. With this in mind, we review and critically analyze this debate. First, we identify long-standing inconsistencies between consensus guidelines and clinical practice regarding risk assessment for adult-onset genetic disorders in children using family history and molecular analysis. Second we discuss the disparate assumptions regarding the nature of whole genome and exome sequencing underlying arguments of both supporters and critics, and the role these assumptions play in the arguments for and against reporting. Third, we suggest that implicit differences regarding the definition of best interests of the child underlie disparate conclusions as to the best interests of children in this context. We conclude by calling for clarity and consensus concerning the central foci of this debate.
The publication of the ACMG recommendations has reignited the debate over predictive testing for adult-onset disorders in minors. Response has been polarized. With this in mind, we review and critically analyze this debate. First, we identify long-standing inconsistencies between consensus guidelines and clinical practice regarding risk assessment for adult-onset genetic disorders in children using family history and molecular analysis. Second we discuss the disparate assumptions regarding the nature of whole genome and exome sequencing underlying arguments of both supporters and critics, and the role these assumptions play in the arguments for and against reporting. Third, we suggest that implicit differences regarding the definition of best interests of the child underlie disparate conclusions as to the best interests of children in this context. We conclude by calling for clarity and consensus concerning the central foci of this debate.
Hallowell N, Hall A, Alberg C, Zimmern R. Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues. J Med Ethics. 2014 Jul 18. pii: medethics-2013-101996. doi: 10.1136/medethics-2013-101996. [Epub ahead of print]
The introduction of new sequencing technologies whole-genome sequencing (WGS) and whole-exome sequencing (WES) that are much less finely targeted than previous genetic tests has resulted in ethical debate about what should be done with clinically significant findings that may arise during the sequencing process. In this piece we argue that, in addition to whether the finding has been intentionally sought or arises incidentally, the ethical issues concerning what should be done with WES and WGS findings are also influenced by whether sequencing occurs in a clinical or research setting. We argue that decisions about the disclosure of WGS and WES findings generated in the clinical context are much less ethically contentious than decision making about the feedback of research results. We conclude by calling for greater transparency about the purpose of sample collection, more explicit protocols for transitioning between research and clinical contexts and patients and research participants to be warned of the potential for incidental findings to be generated, their potential significance and the actions that might be taken as a result.
The introduction of new sequencing technologies whole-genome sequencing (WGS) and whole-exome sequencing (WES) that are much less finely targeted than previous genetic tests has resulted in ethical debate about what should be done with clinically significant findings that may arise during the sequencing process. In this piece we argue that, in addition to whether the finding has been intentionally sought or arises incidentally, the ethical issues concerning what should be done with WES and WGS findings are also influenced by whether sequencing occurs in a clinical or research setting. We argue that decisions about the disclosure of WGS and WES findings generated in the clinical context are much less ethically contentious than decision making about the feedback of research results. We conclude by calling for greater transparency about the purpose of sample collection, more explicit protocols for transitioning between research and clinical contexts and patients and research participants to be warned of the potential for incidental findings to be generated, their potential significance and the actions that might be taken as a result.
Bradbury AR(1), Patrick-Miller L(2), Domchek S(3). Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing. Genet Med. 2014 Jul 17. doi: 10.1038/gim.2014.85. [Epub ahead of print]
Watt H. Ancestor embryos: embryonic gametes and genetic parenthood. J Med Ethics. 2014 Jul 10. pii: medethics-2013-101819. doi: 10.1136/medethics-2013-101819. [Epub ahead of print]
The proposal for reproducing human generations in vitro raises the question to what extent parenthood is possible in embryos and to what extent human rights and interests are dependent on conscious awareness. This paper argues that the interest in not being made a parent non-consensually for the benefit of others persists throughout the lifespan of the individual human organism. We do not become genetic parents by learning that we are parents; rather, we discover (or fail to discover) an existing genetic relationship between our offspring and ourselves. The claim to genetic parenthood of an embryo used for reproduction in vitro is, if anything, clearer than the claim of the adult for whom gametes are derived via ips cells, in that an embryo’s cells, unlike an adult’s somatic cells, are already functionally geared to producing gametes (among other types of cell). An embryo used to make gametes that are used in reproduction is immediately and non-consensually made a genetic parent and to that extent is wronged whether or not the parent embryo survives-as some could survive-the harvesting of cells. All human individuals carry objective interests in benefits appropriate to the kind of being they are; these include the stake in not being made a parent without one’s consent, whether posthumously or otherwise.
The proposal for reproducing human generations in vitro raises the question to what extent parenthood is possible in embryos and to what extent human rights and interests are dependent on conscious awareness. This paper argues that the interest in not being made a parent non-consensually for the benefit of others persists throughout the lifespan of the individual human organism. We do not become genetic parents by learning that we are parents; rather, we discover (or fail to discover) an existing genetic relationship between our offspring and ourselves. The claim to genetic parenthood of an embryo used for reproduction in vitro is, if anything, clearer than the claim of the adult for whom gametes are derived via ips cells, in that an embryo’s cells, unlike an adult’s somatic cells, are already functionally geared to producing gametes (among other types of cell). An embryo used to make gametes that are used in reproduction is immediately and non-consensually made a genetic parent and to that extent is wronged whether or not the parent embryo survives-as some could survive-the harvesting of cells. All human individuals carry objective interests in benefits appropriate to the kind of being they are; these include the stake in not being made a parent without one’s consent, whether posthumously or otherwise.
Crouch J, Yu JH, Shankar AG, Tabor HK. “We Don’t Know Her History, Her Background”: Adoptive Parents’ Perspectives on Whole Genome Sequencing Results. J Genet Couns. 2014 Jul 12. [Epub ahead of print]
Exome sequencing and whole genome sequencing (ES/WGS) can provide parents with a wide range of genetic information about their children, and adoptive parents may have unique issues to consider regarding possible access to this information. The few papers published on adoption and genetics have focused on targeted genetic testing of children in the pre-adoption context. There are no data on adoptive parents’ perspectives about pediatric ES/WGS, including their preferences about different kinds of results, and the potential benefits and risks of receiving results. To explore these issues, we conducted four exploratory focus groups with adoptive parents (N = 26). The majority lacked information about their children’s biological family health history and ancestry, and many viewed WGS results as a way to fill in these gaps in knowledge. Some expressed concerns about protecting their children’s future privacy and autonomy, but at the same time stated that WGS results could possibly help them be proactive about their children’s health. A few parents expressed concerns about the risks of WGS in a pre-adoption context, specifically about decreasing a child’s chance of adoption. These results suggest that issues surrounding genetic information in the post-adoption and ES/WGS contexts need to be considered, as well as concerns about risks in the pre-adoption context. A critical challenge for ES/WGS in the context of adoption will be balancing the right to know different kinds of genetic information with the right not to know. Specific guidance for geneticists and genetic counsellors may be needed to maximize benefits of WGS while minimizing harms and prohibiting misuse of the information in the adoption process.
Exome sequencing and whole genome sequencing (ES/WGS) can provide parents with a wide range of genetic information about their children, and adoptive parents may have unique issues to consider regarding possible access to this information. The few papers published on adoption and genetics have focused on targeted genetic testing of children in the pre-adoption context. There are no data on adoptive parents’ perspectives about pediatric ES/WGS, including their preferences about different kinds of results, and the potential benefits and risks of receiving results. To explore these issues, we conducted four exploratory focus groups with adoptive parents (N = 26). The majority lacked information about their children’s biological family health history and ancestry, and many viewed WGS results as a way to fill in these gaps in knowledge. Some expressed concerns about protecting their children’s future privacy and autonomy, but at the same time stated that WGS results could possibly help them be proactive about their children’s health. A few parents expressed concerns about the risks of WGS in a pre-adoption context, specifically about decreasing a child’s chance of adoption. These results suggest that issues surrounding genetic information in the post-adoption and ES/WGS contexts need to be considered, as well as concerns about risks in the pre-adoption context. A critical challenge for ES/WGS in the context of adoption will be balancing the right to know different kinds of genetic information with the right not to know. Specific guidance for geneticists and genetic counsellors may be needed to maximize benefits of WGS while minimizing harms and prohibiting misuse of the information in the adoption process.
Crawford JM, Bry L, Pfeifer J, Caughron SK, Black-Schaffer S, Kant JA, Kaufman JH. The business of genomic testing: a survey of early adopters. Genet Med. 2014 Jul 10. doi: 10.1038/gim.2014.60. [Epub ahead of print]
Purpose: The practice of “genomic” (or “personalized”) medicine requires the availability of appropriate diagnostic testing. Our study objective was to identify the reasons for health systems to bring next-generation sequencing into their clinical laboratories and to understand the process by which such decisions were made. Such information may be of value to other health systems seeking to provide next-generation sequencing testing to their patient populations. Methods: A standardized open-ended interview was conducted with the laboratory medical directors and/or department of pathology chairs of 13 different academic institutions in 10 different states. Results: Genomic testing for cancer dominated the institutional decision making, with three primary reasons: more effective delivery of cancer care, the perceived need for institutional leadership in the field of genomics, and the premise that genomics will eventually be cost-effective. Barriers to implementation included implementation cost; the time and effort needed to maintain this newer testing; challenges in interpreting genetic variants; establishing the bioinformatics infrastructure; and curating data from medical, ethical, and legal standpoints. Ultimate success depended on alignment with institutional strengths and priorities and working closely with institutional clinical programs. Conclusion: These early adopters uniformly viewed genomic analysis as an imperative for developing their expertise in the implementation and practice of genomic medicine. Genet Med advance online publication 10 July 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.60.
Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR), Viville S, de Wert G, Macek M Jr; ESHG, ESHRE and EuroGentest2. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy†. Hum Reprod. 2014 Aug;29(8):1603-9. doi: 10.1093/humrep/deu130. Epub 2014 Jul 8.
STUDY QUESTION: How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? SUMMARY ANSWER: The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. WHAT IS KNOWN ALREADY: In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and ART and published an extended background paper, recommendations and two Editorials. STUDY DESIGN, SIZE, DURATION: An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project.
PARTICIPANTS/MATERIALS, SETTING, METHODS: In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics and ART. MAIN RESULTS AND THE ROLE OF CHANCE: As more genetic causes of reproductive failure are now recognized and an increasing number of patients undergo testing of their genome prior to conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and PGD may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from RCTs to substantiate that the technique is both effective and efficient. Whole genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. LIMITATIONS, REASONS FOR CAUTION: The legal landscape regarding assisted reproduction is evolving, but still remains very heterogeneous and often contradictory. The lack of legal harmonization and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe, and beyond. WIDER IMPLICATIONS OF THE FINDINGS: This continually evolving field requires communication between the clinical genetics and IVF teams and patients to ensure that they are fully informed and can make well-considered choices. STUDY FUNDING/COMPETING INTERESTS: Funding was received from ESHRE, ESHG and
EuroGentest2 European Union Coordination Action project (FP7 -HEALTH-F4-2010-26146) to support attendance at this meeting.
Purpose: The practice of “genomic” (or “personalized”) medicine requires the availability of appropriate diagnostic testing. Our study objective was to identify the reasons for health systems to bring next-generation sequencing into their clinical laboratories and to understand the process by which such decisions were made. Such information may be of value to other health systems seeking to provide next-generation sequencing testing to their patient populations. Methods: A standardized open-ended interview was conducted with the laboratory medical directors and/or department of pathology chairs of 13 different academic institutions in 10 different states. Results: Genomic testing for cancer dominated the institutional decision making, with three primary reasons: more effective delivery of cancer care, the perceived need for institutional leadership in the field of genomics, and the premise that genomics will eventually be cost-effective. Barriers to implementation included implementation cost; the time and effort needed to maintain this newer testing; challenges in interpreting genetic variants; establishing the bioinformatics infrastructure; and curating data from medical, ethical, and legal standpoints. Ultimate success depended on alignment with institutional strengths and priorities and working closely with institutional clinical programs. Conclusion: These early adopters uniformly viewed genomic analysis as an imperative for developing their expertise in the implementation and practice of genomic medicine. Genet Med advance online publication 10 July 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.60.
Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR), Viville S, de Wert G, Macek M Jr; ESHG, ESHRE and EuroGentest2. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy†. Hum Reprod. 2014 Aug;29(8):1603-9. doi: 10.1093/humrep/deu130. Epub 2014 Jul 8.
STUDY QUESTION: How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? SUMMARY ANSWER: The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. WHAT IS KNOWN ALREADY: In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and ART and published an extended background paper, recommendations and two Editorials. STUDY DESIGN, SIZE, DURATION: An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project.
PARTICIPANTS/MATERIALS, SETTING, METHODS: In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics and ART. MAIN RESULTS AND THE ROLE OF CHANCE: As more genetic causes of reproductive failure are now recognized and an increasing number of patients undergo testing of their genome prior to conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and PGD may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from RCTs to substantiate that the technique is both effective and efficient. Whole genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. LIMITATIONS, REASONS FOR CAUTION: The legal landscape regarding assisted reproduction is evolving, but still remains very heterogeneous and often contradictory. The lack of legal harmonization and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe, and beyond. WIDER IMPLICATIONS OF THE FINDINGS: This continually evolving field requires communication between the clinical genetics and IVF teams and patients to ensure that they are fully informed and can make well-considered choices. STUDY FUNDING/COMPETING INTERESTS: Funding was received from ESHRE, ESHG and
EuroGentest2 European Union Coordination Action project (FP7 -HEALTH-F4-2010-26146) to support attendance at this meeting.
Rubin LR, Werner-Lin A, Sagi M, Cholst I, Stern R, Lilienthal D, Hurley K. ‘The BRCA Clock is Ticking!’: Negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis. Hum Fertil (Camb). 2014 Sep;17(3):159-64. doi: 10.3109/14647273.2014.940003. Epub 2014 Aug 8.
Despite research on BRCA1/2 mutation carriers attitudes towards preimplantation genetic diagnosis (PGD), considerably less is known about individuals’ experience with its use. Through case reports of BRCA1/2 mutation carriers’ thoughts on, and use of, PGD, this paper highlights how the option of PGD is experienced and negotiated in the context of reproductive and life-course goals. Drawing on qualitative interviews with 38 BRCA1/2 mutation carriers, this article focuses on a subsample of 10 interviewees who sought consultation for, and/or attempted, PGD, with in-depth reports of 3 cases and summary decisions of the remaining 7. Three couples decided against PGD, and one was deciding at the time of the interview. Interviewees discuss key aspects of their experience prior to, and going through, PGD for BRCA1/2, including potential challenges of becoming pregnant through PGD and of heightened pressure to achieve their reproductive goals more quickly. Despite considerable focus on ethical issues in screening embryos for mutations associated with adult-onset cancer risk, less attention has been paid to the technical, logistical, and related psychosocial issues. Narrative case reports may help individuals develop appropriate expectations of PGD for BRCA prepare for possibly challenging decisions and outcomes, and ultimately determine whether it is compatible with their reproductive goals.
Despite research on BRCA1/2 mutation carriers attitudes towards preimplantation genetic diagnosis (PGD), considerably less is known about individuals’ experience with its use. Through case reports of BRCA1/2 mutation carriers’ thoughts on, and use of, PGD, this paper highlights how the option of PGD is experienced and negotiated in the context of reproductive and life-course goals. Drawing on qualitative interviews with 38 BRCA1/2 mutation carriers, this article focuses on a subsample of 10 interviewees who sought consultation for, and/or attempted, PGD, with in-depth reports of 3 cases and summary decisions of the remaining 7. Three couples decided against PGD, and one was deciding at the time of the interview. Interviewees discuss key aspects of their experience prior to, and going through, PGD for BRCA1/2, including potential challenges of becoming pregnant through PGD and of heightened pressure to achieve their reproductive goals more quickly. Despite considerable focus on ethical issues in screening embryos for mutations associated with adult-onset cancer risk, less attention has been paid to the technical, logistical, and related psychosocial issues. Narrative case reports may help individuals develop appropriate expectations of PGD for BRCA prepare for possibly challenging decisions and outcomes, and ultimately determine whether it is compatible with their reproductive goals.
Morning, A. And you thought we had moved beyond all that: biological race returns to the social sciences. Ethnic and Racial Studies. 2014, 37(10): 1676-1685
Recently, sociologists have argued in high-profile journals that racial categories are linked to genetically distinct clusters within the human population. They propose theorizing race as a socially constructed categorization system that is related to biological groupings within our species. This work overlooks, however, the extent to which statistically inferred genetic clusters are themselves socially constructed, making it impossible to juxtapose ‘subjective’ social categories with ‘objective’ biological ones. This editorial urges social scientists to take a critical look at claims about the genetic underpinnings of race, and to contribute their insights to ongoing debates about the nature of race.
Recently, sociologists have argued in high-profile journals that racial categories are linked to genetically distinct clusters within the human population. They propose theorizing race as a socially constructed categorization system that is related to biological groupings within our species. This work overlooks, however, the extent to which statistically inferred genetic clusters are themselves socially constructed, making it impossible to juxtapose ‘subjective’ social categories with ‘objective’ biological ones. This editorial urges social scientists to take a critical look at claims about the genetic underpinnings of race, and to contribute their insights to ongoing debates about the nature of race.
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