Impact of subsidies on cancer genetic testing uptake in Singapore

Li, Shao-Tzu; Yuen, Jeanette; Zhou, Ke; Ishak, Nur Diana Binte; Met-Domestici, Marie; Chan, Sock Hoai; Tan, Yee Pin; Allen, John C.; Lim, Soon Thye; Soo, Khee Chee; Ngeow, Joanne

doi:10.1136/jmedgenet-2016-104302

Cited by 33 publications

(53 citation statements)

References 28 publications

(36 reference statements)

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“…Moreover, inspection of the standardized residual loadings for items indicated that 6 items all relating to cognitive, behavioral or decisional control, were loaded together. Therefore, based on this and the domain structure posited in the paper by Tirado et al, 11 this supported the splitting of GCOS-24 into two discrete scales which were analyzed separately: (1) "Cognitive [EC] (items 4,6,8,9,11,[19][20][21][22], which encompassed hope and emotional regulation.…”

Section: Psychometric Assessment Of the Gcos-24mentioning

confidence: 70%

Evaluating empowerment in genetic counseling using patient‐reported outcomes

et al. 2019

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Data about patient reported outcomes from cancer genetics services (CGS) are lacking but are essential to guide service evaluation and improvements. We measured improvement in empowerment, following genetic counseling in Singapore using a culturallyadapted version of the Genetic Counseling Outcome Scale (GCOS-24); and sought to identify factors associated with change in empowerment. The GCOS-24 was administered to 155 patients of the CGS, at pre-and post-counseling or testing timepoints. Of which, 110 patients underwent genetic testing. Individual pre-and post-counseling responses were subjected to Rasch analysis; the scale was subsequently split into cognitive control (CC) and emotional control (EC) domains. Associations of baseline characteristics with changes in pre-and post-CC and EC scores were assessed using multiple regression analysis. Both CC and EC scores showed significant improvement following genetic counseling and testing. While all items in the CC domain of being showed increases at follow-up, aspects of EC related to alleviating negative emotions (P = .88) and hopelessness (P = .2) did not show significant improvement. Our study revealed significant improvement in empowerment in patients who have received cancer genetic counseling, while revealing a need to cultivate hope and facilitate the alleviation of negative emotions in patients during genetic counseling.

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Section: Psychometric Assessment Of the Gcos-24mentioning

confidence: 70%

Evaluating empowerment in genetic counseling using patient‐reported outcomes

et al. 2019

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“…Barriers for genetic testing in Asia are multifactorial and beyond the scope of this paper, however cost of testing is a major concern for patients (Li et al. ).…”

Section: Discussionmentioning

confidence: 99%

Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing

Chew

Courtney

Lim

et al. 2017

Mol Genet Genomic Med

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BackgroundPheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors of the adrenal glands and paraganglia, occurring sporadically or as a range of hereditary tumor syndromes. About 30% of PPGLs are attributed to germline mutations. Clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background. Genetic testing for PPGLs is not well studied in Southeast Asia. We reviewed clinical management of PPGLs in Singapore, highlighting current gaps in clinical practice.MethodsMedical records of patients with PPGLs between 2005 and 2016 were reviewed. Diagnosis was confirmed histologically and stratified into sporadic or familial/syndromic (FS).ResultsTwenty‐seven (21.8%) patients were referred to the Cancer Genetics Service (CGS). FS PPGLs (18.5%) and extra‐adrenal PPGLs (58.1%) incidences were higher than previous studies. Referrals were lower for sporadic PPGLs compared to FS PPGLs (3.7% vs. 100%). Referrals were highest at diagnosis age <20 years old (80%) and decreased with increasing age; ≥20–<40 years old (32.1%), ≥40–<60 years old (10.6%). Genetic testing was taken up in 12/27 (44.4%) patients of which 7/12 (58.3%, 3 SDHB, 2 SDHD, 2 VHL) had germline mutations.ConclusionOpportunities for genetic testing are frequently missed due to low referral rates in patients with apparently sporadic PPGLs, particularly between ages 20‐60.

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Section: Introductionmentioning

confidence: 99%

“…Studies have reported low rates of disclosure of BRCA1/2 genetic test results to family members and lower uptake of predictive testing among Asian compared with Western populations. 5,6 Disclosure of genetic information to family is influenced potentially by the result itself, and by complex personal, cultural, and social factors. 7,8 There are the 3 possible test results in genetic testing, which complicates the decision-making process: (1) positive (a pathogenic mutation is found and indicates an increased risk of cancers), (2) negative (no pathogenic mutation is detected), and (3) variant of uncertain significance (VUS, an alteration in the gene sequence with unknown consequence on the function of the gene product or risk of causing disease).…”

Section: Introductionmentioning

confidence: 99%