Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

Thomas, Christie P.; Freese, Margaret E; Ounda, Agnes; Holida, Myrl; Noureddine, Lama; Smith, Richard J.H.

doi:10.1038/s41436-020-01000-0

Cited by 2 publications

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“…The use of genomic sequencing in routine clinical care allows for vastly improved diagnostic yields for genetic kidney disease [ 1 , 2 ]. The yield is in the order of 30–60% combining adult and paediatric contexts [ 1 , 2 , 3 ]. Genomic sequencing technology benefits patients in a clinical diagnostic context through accurate clinical diagnosis, informing management, and familial implications [ 1 , 2 ].…”

Section: Introductionmentioning

confidence: 99%

Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study

O’Shea

Wood

Patel

et al. 2022

Genes

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Background: The choices of participants in nephrology research genomics studies about receiving additional findings (AFs) are unclear as are participant factors that might influence those choices. Methods: Participant choices and factors potentially impacting decisions about AFs were examined in an Australian study applying research genomic testing following uninformative diagnostic genetic testing for suspected monogenic kidney disease. Results: 93% of participants (195/210) chose to receive potential AFs. There were no statistically significant differences between those consenting to receive AFs or not in terms of gender (p = 0.97), median age (p = 0.56), being personally affected by the inherited kidney disease of interest (p = 0.38), or by the inheritance pattern (p = 0.12–0.19). Participants were more likely to choose not to receive AFs if the family proband presented in adulthood (p = 0.01), if there was family history of another genetic disorder (p = 0.01), and where the consent process was undertaken by an adult nephrologist (p = 0.01). Conclusion: The majority of participants in this nephrology research genomics study chose to receive potential AFs. Younger age of the family proband, family history of an alternate genetic disorder, and consenting by some multidisciplinary team members might impact upon participant choices.

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Section: Introductionmentioning

confidence: 99%

Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study

O’Shea

Wood

Patel

et al. 2022

Genes

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show abstract

The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists

Rasouly

Balderes

Marasà

et al. 2023

Genetics in Medicine

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Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

Abstract: The original PDF version of this Article contained an error in Table 3. For subject number 74, the column labeled "Genetic testing" should read CFI p.Tyr369Ser, not CFI p.Tyr200Ser. This has now been corrected in both the PDF and HTML versions of the Article.

Cited by 2 publications

References 0 publications

Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study

Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study

The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists

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