Preimplantation Testing of Embryos for Polygenic Related Conditions: The Ethical Concerns Surrounding It and the Position of Genetic Counselors

Terek, Shannon T.; Gamma, Amber; Zak, Monika; Butts, Heather M.

doi:10.1016/j.fertnstert.2021.07.159

Cited by 7 publications

(8 citation statements)

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“…First, there appears to be a gap between clinician and patient attitudes toward PES, whereby clinicians generally maintained reservations about such screening and patients indicated interest in it. This finding aligns with recent studies of 15/30 American and European healthcare professionals' attitudes toward PES (18,19), American IVF patients' increasing use of preimplantation genetic testing (20), high acceptance of PES (21), and high uptake of PES when offered at no additional financial cost to patients that used PGT-A (22). Moreover, REIs' greatest concern about the lack of available data to support PES may reflect their perceptions of the controversial widespread clinical implementation of PGT-A, which some have argued was premature (23,24).…”

Section: Discussionsupporting

confidence: 92%

Divergence Between Clinician and Patient Perspectives on Polygenic Embryo Screening: A Qualitative Study

Barlevy,

Cenolli,

Campbell

et al. 2023

Preprint

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Structured AbstractObjectiveTo explore and compare the perspectives of clinicians and patients on polygenic embryo screening.DesignQualitative.SubjectsFifty-three participants: 27 reproductive endocrinology and infertility specialists and 26 patients currently undergoing in vitro fertilization or had done so within the last five years.Main Outcome MeasuresQualitative thematic analysis of interview transcripts.ResultsBoth clinicians and patients often held favorable views of screening embryos for physical or psychiatric conditions, though clinicians tended to temper their positive attitudes with specific caveats. Clinicians also expressed negative views about screening embryos for traits more often than patients, who generally held more positive views. Most clinicians were either unwilling to discuss or offer polygenic embryo screening to patients or were willing to do so only under certain circumstances, while many patients expressed interest in polygenic embryo screening. Both sets of stakeholders envisioned multiple potential benefits or uses of polygenic embryo screening; the most common included selection and/or prioritization of embryos, receipt of more information about embryos, and preparation for the birth of a predisposed or “affected” child. Both sets of stakeholders also raised multiple potential, interrelated concerns about polygenic embryo screening. The most common concerns among both sets of stakeholders included the potential for different types of “biases” – most often in relation to selection of embryos with preferred genetic chances of traits –, the probabilistic nature of polygenic embryo screening that can complicate patient counseling and/or lead to excessive cycles of in vitro fertilization, and a lack of data from long-term prospective studies supporting the clinical use of polygenic embryo screening.ConclusionDespite patients’ interest in polygenic embryo screening, clinicians feel such screening is premature for clinical application. Though now embryos can be screened for their genetic chances of developing polygenic conditions and traits, many clinicians and patients maintain different attitudes depending on what is specifically screened, despite the blurry distinction between conditions and traits. Considerations raised by these stakeholders may help guide professional societies as they consider developing guidelines to navigate the uncertain terrain of polygenic embryo screening, which is already commercially available.Funding StatementThis study was supported by the National Institutes of Health’s Human Genome Research Institute [R01HG011711].Disclosure StatementSC is a paid consultant at MyHeritage.Attestation StatementData regarding any of the subjects in the study has not been previously published unless specified.Data will be made available to the editors of the journal for review or query upon request.Data Sharing StatementAppendices 1 and 2 will be available as supplemental materials upon publication. De-identified coded transcript excerpts will be made available upon reasonable request to the corresponding author.CapsuleClinician and patient perspectives on polygenic embryo screening both diverge and overlap, inviting greater reflection on concepts of condition severity and health for the development of professional guidelines.

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Section: Discussionsupporting

confidence: 92%

Divergence Between Clinician and Patient Perspectives on Polygenic Embryo Screening: A Qualitative Study

Barlevy,

Cenolli,

Campbell

et al. 2023

Preprint

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“…In this discussion we have shown how the questions around the 'seriousness' of conditions, selection of non-health-related traits and questions of reproductive autonomy, reproductive 'burden' and the role of the professional are crucial to consider for potential implementation of PGT-P. Future research should also consider current perspectives of healthcare professionals on the themes identified and discussed in this review in light of PGT-P. In a recent study on the perspectives of genetic counsellors in the United States on PGT-P, it became clear that they do not currently feel comfortable offering PGT-P, due to the idea of eugenics and due to limitations in research, patient and provider education and accessibility (Terek et al 2021). It is necessary to critically research various stakeholder views on this in order to analyse if and how ethical implementation of new PGT technologies such as PGT-P would be possible.…”

Section: Discussionmentioning

confidence: 99%

A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing

et al. 2022

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Preimplantation genetic testing (PGT) involves testing embryos created through in vitro fertilization for the presence of hereditary genetic disorders and chromosome abnormalities.PGT for monogenic conditions (PGT-M) is generally performed for childhood-onset, lethal disorders, but is increasingly accepted for certain adult-onset conditions, conditions with available treatment options or conditions with lower penetrance. Furthermore, the development of PGT for polygenic conditions (PGT-P) makes ethical questions regarding PGT indications imperative. A systematic review was therefore performed to gather and analyse studies on the perspectives of healthcare professionals on the appropriate scope of PGT, with the aim of getting insights into the concerns about the scope of PGT now and in the near future. PRISMA guidelines were followed. Twelve qualitative articles were included. The main themes extracted were the scope of PGT and decision-making about PGT. Defining 'a serious genetic condition' was seen as complex, but severity, high penetrance and absence of treatability and patients' experience were seen as relevant indications to determine the appropriateness of PGT. In navigating the decision-making processes with patients, professionals experienced friction between setting limits and respecting patients' autonomy. Such friction and ethical dilemmas around seriousness, informed decision-making and preventative medicine show that while expanding the list of possible PGT indications and the development of PGT-P could augment patients' reproductive autonomy, it could also lead to an increased reproductive 'burden' for patients. These insights are crucial for establishing guidelines that help healthcare professionals navigate ethical tensions associated with PGT.

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“…[3][4][5]10,[53][54][55]61,62 A study in the United States concluded that at the moment genetic counsellors do not feel comfortable offering PGT-P, due to limitations of patient and provider education, research, accessibility and links to eugenics. 6 This indicates that informed decision-making regarding PGT-P is complex from both the provider's and the patient's side. It can be argued that offering PGT-P with lower risk and severity requirements than for PGT-M might be more accepted if it is offered as an 'add-on' for PGT or IVF patients for whom no IVF/PGT cycle would have to be initiated.…”

Section: Discussionmentioning

confidence: 99%

“…Specifically, questions are raised around the clinical utility of PGT-P, with the potential gain for quantitative traits characterized as uncertain and relatively limited even when PRS are applied to adult populations. [3][4][5][6][7][8] Additionally, couples only have a limited number of embryos to select from, environmental factors play a role in development of polygenic conditions or traits and the range of polygenic risk scores between embryos from the same biological parents is lower than the wider range of risk from individuals in the general population. 3,4,9 Furthermore, the additional options of PGT-P could provide complex choices for prospective parents who might have to balance risk indications for various conditions.…”

Section: Introductionmentioning

confidence: 99%

“…4,5,8 Accessibility to the technology is relevant as well to contemplate, especially if clinical utility improves in the future. 4,[6][7][8] So far, PGT-P has been offered by some commercial entities but not been implemented in healthcare. 5 The United States based companies Genomic Prediction and Orchid aim to "identify your healthiest embryo" with PGT-P. 11,12 Genomic Prediction's service called LifeView currently offers PGT-P for schizophrenia, type 1 and 2 diabetes, breast cancer, prostate cancer, testicular cancer, basal cell carcinoma, malignant melanoma, hypercholesterolemia, hypertension, heart attack and coronary artery disease.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P

Siermann

Tšuiko

Vermeesch

et al. 2022

Genetics in Medicine

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Preimplantation Testing of Embryos for Polygenic Related Conditions: The Ethical Concerns Surrounding It and the Position of Genetic Counselors

Abstract: This study demonstrates the benefit of a SNP array-based POC testing platform for identifying patients who would require additional management after a pregnancy with paternal triploidy, which can occur in women of all ages and at all gestational ages.

Cited by 7 publications

References 0 publications

Divergence Between Clinician and Patient Perspectives on Polygenic Embryo Screening: A Qualitative Study

Divergence Between Clinician and Patient Perspectives on Polygenic Embryo Screening: A Qualitative Study

A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing

A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P

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