On the future of genetic risk assessment

Ropers, Hans‐Hilger

doi:10.1007/s12687-012-0092-2

Cited by 68 publications

(55 citation statements)

References 31 publications

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“…28 In contrast, others have suggested, often with attribution to the policies of direct-to-consumer genetic testing companies, that all iES/WGS results should be made available to persons who are sequenced. 17 While such normative research on these issues is of intrinsic value, it is likely to be of limited heuristic value now that ES/WGS is cheap, fast, and convenient; broadly accessible to researchers, primary care providers and the public alike; 40 and being applied in an increasing range of applications (e.g., non-invasive fetal genetic diagnosis and diagnostic evaluation, genomic research). 40–42 In other words, clinicians and researchers who elect to return results alike are facing right now the practical issue of how to return iES/WGS results.…”

Section: Return Of Es/wgs Results Is Inevitable and Ethically Approprmentioning

confidence: 99%

Self-guided management of exome and whole-genome sequencing results: changing the results return model

Jamal

Tabor

et al. 2013

Genetics in Medicine

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Exome sequencing and whole-genome sequencing (ES/WGS) have become important tools for identifying alleles underlying both Mendelian and complex health-related traits. [1][2][3][4][5][6] The number of individuals who have undergone ES/WGS has steadily increased, and this trend is accelerating with the rapid commercial adaptation of sequencing for service that has made ES/ WGS available to nearly any researcher/clinician. In contrast to targeted approaches, ES/WGS simultaneously reveals virtually every allele that might confer risk or benefit to an individual's health and well-being. Therefore, in essentially every person, ES/WGS identifies alleles that are, or could be, of clinical utility-everyone is genetically "at risk. " Accordingly, the scope of individual health-related information generated by ES/WGS is unprecedented 7-10 and challenges many of the existing guidelines, policies, and professional norms about returning results from human genetic testing. [11][12][13] Bioethics research, albeit limited, and policy recommendations on return of individual ES/WGS (iES/WGS) results to date have focused mainly on issues such as which results should be returned in a clinical setting; 14-16 whether results should be returned at all in a research setting, and if so, which results; [17][18][19][20][21][22][23][24][25][26][27] and what to do about incidental findings in either setting. 8,[27][28][29][30][31][32][33][34][35][36] The spectrum of opinions that has emerged about these issues is broad with fairly polarized extremes. Some researchers have argued aggressively that only under few circumstances should research iES/WGS results be returned 12,37-39 and in clinical settings, a filter should be imposed on iES/WGS results so as to force return of results into the existing return of results model. 28 By contrast, others have suggested, often with attribution to the policies of direct-to-consumer genetic-testing companies, that all iES/WGS results should be made available to persons who are sequenced. 17 Although such normative research on these issues is of intrinsic value, it is likely to be of limited heuristic value now that ES/WGS is cheap, fast, and convenient; broadly accessible to researchers, primary-care providers, and the public alike; 40 and being applied in an increasing range of applications (e.g., noninvasive fetal genetic diagnosis and diagnostic evaluation, genomic research). [40][41][42] In other words, clinicians and researchers alike who elect to return results are facing right now the practical issue of how to return iES/WGS results.Most discussions about the ethics of return of iES/WGS results have been framed around a traditional model of clinical genetic testing in which results are discrete dichotomous variables, and return of results is conducted at a fixed point in time when a result(s) becomes available. The meaning of the result (i.e., the scientific and medical understanding of a variant) is also fixed at the point in time when the test/analysis was completed, and the scope of data is con...

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Section: Return Of Es/wgs Results Is Inevitable and Ethically Approprmentioning

confidence: 99%

Self-guided management of exome and whole-genome sequencing results: changing the results return model

Jamal

Tabor

et al. 2013

Genetics in Medicine

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“…15 This implies that the risk of being a carrier couple is in the same order of magnitude as having a child with Down syndrome at the age of 37. 23 Our findings also indicate that the provision of more genetic risk information does not automatically translate into more opportunities for meaningful reproductive choice. The challenge of how to secure informed choice in situations where people risk being overwhelmed with genetic information has already been addressed by Elias and Annas in the 1990s.…”

Section: Discussionmentioning

confidence: 82%

Advantages of expanded universal carrier screening: what is at stake?

et al. 2016

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“…One must agree with the primary care professionals, however, that the possibilities of clinical genetics to reliably predict which couple is at high risk ( ≥ 25%) and for what diseases are still limited in these early decades of the genomic era. Translating the possibilities of genome-wide or targeted screening should be explored to improve preconception risk assessment and enable informed decision making for consanguineous couples [29][30][31] .…”

Section: Medical Intervention and Responsibilitymentioning

confidence: 99%

Consanguinity and Endogamy in the Netherlands: Demographic and Medical Genetic Aspects

Kate¹,

Teeuw²,

Henneman³

et al. 2014

Hum Hered

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This paper reviews what is currently known about the presence of consanguinity and endogamy in the Netherlands, in the past and today, and concludes with a discussion of medical genetic aspects. First geographic characteristics, the demographic history, the genetic make-up of the native population, legal aspects and the public opinion are reviewed. Then data on the prevalence of consanguinity in the native population are presented for marriages since 1840, followed by data on consanguineous marriages among immigrants from countries with a tradition of close-kin marriages. It is estimated that approximately 1% of at-risk consanguineous couples are referred to clinical genetic centres for prospective genetic counselling in the Netherlands. This picture will change dramatically if and when next-generation sequencing is introduced to identify couples at ≥25% risk prospectively.

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On the future of genetic risk assessment

Abstract: Next-generation sequencing (NGS)

Cited by 68 publications

References 31 publications

Self-guided management of exome and whole-genome sequencing results: changing the results return model

Self-guided management of exome and whole-genome sequencing results: changing the results return model

Advantages of expanded universal carrier screening: what is at stake?

Consanguinity and Endogamy in the Netherlands: Demographic and Medical Genetic Aspects

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