Ethical implications and practical considerations of ethnically targeted screening for genetic disorders: the case of hemoglobinopathy screening
Simon M. Dyson, Karl Atkin in Genetics and Global Public Health, 2014
The use of information on race, ethnicity, or ancestry to target the offer of testing for genetic diseases is controversial. Although there is overlap among the three terms, they are not interchangeable. ‘Race’ is a social construct in which information on physical characteristics as well as perceived ancestry is used to arbitrarily assign persons to one of several broad groupings associated with presumed continental ancestry. Ethnicity is a matter of self-identification of belonging to a community or population group with a bond of perceived shared ancestry that also shares certain common external characteristics (which may be social, linguistic, or religious) and internal practices and norms, but individuals can have multiple ethnic identities that vary by context (Krieger 2000). The term ‘race’ is used in the US to distinguish people classified as ‘Black,’ ‘White,’ Asian, Pacific Islander, or Native American, and ‘ethnicity’ is used to distinguish Hispanic from non-Hispanic persons. To refer to both classifications simultaneously, we refer to race/ethnicity. In the UK, the term ‘race’ is less commonly used. Ancestry can refer to multiple concepts, the two most relevant of which are ‘biogeographic ancestry’ in which a person identifies with the geographic location(s) of presumed ancestors, and continental ancestry which assumes that individuals belong to one or more of four or five major continental populations (Royal et al. 2010).
The traffic of cells and ideas
Joanna Ziarkowska in Indigenous Bodies, Cells, and Genes, 2020
As a poetic counterpart and predecessor of Native American DNA by Kim TallBear, Cell Traffic addresses the complex problem of attributing to DNA testing the power to determine and authenticate tribal belonging. Chapter five presents Kim TallBear’s analysis of the coproduction of genetic ancestry tests, from which she concludes that they provide easy biological answers to complex social, legal, and cultural questions. Despite the presence of such claims in many genetic companies’ marketing materials, there is no marker for a tribe that would unequivocally prove an individual’s biological connection to the tribe and, thus, facilitate the enrollment process. Ancestry markers, most commonly used in such tests, are not restricted to single populations. Rather, they are found at higher frequencies in some populations and at lower frequencies in others. Moreover, genetic tests entirely ignore the fact that the tribe is not a genetic population but a dynamic social, legal, and cultural organism which does not rely solely on biological connections.
Family, friends and heredity
Kate Reed in Gender and Genetics, 2012
Existing studies therefore tend to show some disagreement over the extent and nature of the roles played by family and friends as both supporters and advisers of women undergoing prenatal screening and testing. Aside from support and advice, however, there is another more direct role played by family in this context. That is the role of family history in determining genetic risks. The notion of genetic inheritance has grasped the imagination of those with a family history of various diseases for example breast or colon cancer. The role of inheritance in disease potential is firmly established (Fox-Keller 1992). Both the mass-media and doctor–patient relationship tend to amplify people’s emphasis on biological kinship and the realisation that family and kin pass on disease. In light of this an extensive family history is at present the key tool used by modern medicine to estimate an individual’s risk of disease. Acquiring a family history requires detailed information from an individual about their relative’s ages, medical problems, relationships ancestry and ethnicity (Finkler et al. 2003). Such risk assessment through family history may then lead to genetic testing to further identify risk (Yoon et al. 2002).
Disparities in Inherited Retinal Degenerations
Published in Seminars in Ophthalmology, 2023
Sarah Chorfi, Emily M. Place, Rachel M. Huckfeldt
Finally, in addition to the challenges related to equitable representation of populations in our genomic dataset, labelling of the different ethnic backgrounds is also a challenge. The curation of GWAS publications showed “inconsistent” and “ambiguous” reporting of ethnic origin.38 In the absence of established guidelines for representation of ancestry data, Morales et al. described a framework for standardized description of sample ethnic background.38 The development of increasingly sophisticated bioinformatics programs that can infer genetic ancestry based on DNA rather than self-reported genealogic ancestry labels will help with labeling in the future. Populations that have traditionally been grouped together such as African Americans and Africans may be separated if bioinformatics programs are used to infer ancestry.
The Place of Philosophy in Bioethics Today? Ancestry Counts
Published in The American Journal of Bioethics, 2022
However, what’s not fully historically sensitive in BB’s account is their apparent view that “the two fields,” as they headline it, philosophy and bioethics, should stay “richly connected.” These aren’t sibling fields, wrestling for supremacy the way puppies and baby humans do. Though this sort of competition for space and support may be true in current institutional arrangements, we shouldn’t think of philosophy and bioethics as “estranged,” and they aren’t “candidates for meaningful integration.” Philosophy’s relationship to bioethics, as I see it, is much deeper, closer, more central: philosophy is the parent of bioethics, the intellectual gestator, as it is of every other now-fissioned-off disciplinary field—biology, economics, psychology, or virtually any area of academic, professional and general interest that coalesces as a field. Ancestry is important: it shapes much of what the child becomes. Historically speaking, worry about and reflection on a field’s central issues may well have begun a long time ago and its way of thinking about issues developed then: as Bertrand Russell is reputed to have once said, “philosophy is but a series of footnotes to Plato.”2 In some ways, that’s true of bioethics too, even with its spectacular contemporary developments.
Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene
Published in Ophthalmic Genetics, 2018
Joanna Monika Gray, Harry Otway Orlans, Morag Shanks, Penny Clouston, Robert Elvis MacLaren
The most commonly described MAK mutation is a 353-bp Alu insertion, reported to date at three locations, all at close proximity to each other within exon 9: between codons 428–429 (Tucker at al. 2011) (10), between codons 429–430 (Lai et al, 2016) (16) and within codon 433 (Kimchi et al. 2017) (13). All are null mutations predicted to result in loss of the retina-specific isoform of the kinase. The Alu insertion mutation is preponderant within the Ashkenazi Jewish population with a carrier frequency estimated as 1 in 55 (17). It is interesting to note that human-specific Alu repeats comprise approximately 5% of the human genome and Alu polymorphisms are utilized in anthropological studies of human origin (18,19). Alu insertions are very stable and rarely undergo deletion. Their presence can therefore be used to determine ancestry and vice versa. Indeed, a rapid Alu insertion screen could be considered as the primary target for molecular diagnosis in patients of Ashkenazi Jewish descent presenting with RP (19,20).
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