Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

Mulhern, Maureen; Bier, Louise; Alcalay, Roy N.; Balwani, Manisha

doi:10.1007/s10897-017-0161-0

Cited by 18 publications

(16 citation statements)

References 14 publications

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“…To date, investigations of patients' responses to learning of their own individual health risk through genetic carrier testing have been limited. One study explored patients' knowledge about the association between Gaucher disease carrier status and Parkinson's disease 13 . The authors requested feedback from patients who previously screened negative for Gaucher disease via carrier screening.…”

Section: Discussionmentioning

confidence: 99%

Counseling for personal health implications identified during reproductive genetic carrier screening

et al. 2021

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Objective Preconception and prenatal carrier screening is designed to provide reproductive risk information, but carriers for some autosomal recessive or X‐linked conditions also have personal health risks. This study investigated the prevalence of and inclusion of personal health implications in pre‐ and post‐test counseling. Methods Twelve genetic conditions with personal health risks for carriers included on carrier screening panels but not otherwise screened routinely were identified (e.g., Gaucher disease with Parkinson's disease risk). A retrospective review was performed of patients with a positive carrier screen for one of these conditions at our center from 2012 to 2019. Results Of 6147 individuals that had carrier screening for one of the twelve conditions, 96 (1.56%) did not report a known family history and screened positive for one of the conditions. Testing was ordered largely by reproductive endocrinologists (51.0%) and genetic counselors (35.4%). Most individuals did not receive pre‐ (96.8%) or post‐test (64.6%) counseling about personal health risks. Post‐test counseling was performed principally by genetic counselors (97.1%). For carriers of conditions with guidelines for specialist referral, most individuals (75.9%) were referred. Conclusion Expanded genetic carrier screening increasingly identifies individuals with personal health implications, but patients are frequently not counseled before or after testing. These findings stress the importance of developing guidelines for practitioners about expanded carrier screening counseling and follow‐up.

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Section: Discussionmentioning

confidence: 99%

Counseling for personal health implications identified during reproductive genetic carrier screening

et al. 2021

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“…There is little information in the literature about genetic counseling in populations at risk of PD; in one study of patients’ opinions concerning genetic counseling, 86.7% of the population at risk for PD believed that patients should be informed of this risk prior to screening for GBA1 mutation carriers. Of these, 93.3% answered that prior knowledge of this risk would not have affected the decision to undergo screening [23].…”

Section: Discussionmentioning

confidence: 99%

Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1

Wilke

Dornelles

Schuh

et al. 2019

Orphanet J Rare Dis

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Background Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson’s disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of PD may be preceded by many non-motor symptoms (NMS), which include hyposmia, rapid eye movement (REM) sleep behavior disorder, constipation, cognitive impairment, and depression. Population studies have identified mutations in GBA1 as the main risk factor for idiopathic PD. The present study sought to evaluate the prevalence of NMS in a cohort of patients with GD type 1 from Southern Brazil. Methodology This is an observational, cross-sectional study, with a convenience sampling strategy. Cognition was evaluated by the Montreal Cognitive assessment (MoCa), daytime sleepiness by the Epworth Scale, depression by the Beck Inventory, constipation by the Unified Multiple System Atrophy Rating Scale, and REM sleep behavior disorder by the Single-Question Screen; hyposmia by the Sniffin’ Sticks. Motor symptoms were assessed with part III of the Unified Parkinson’s Disease Rating Scale. All patients were also genotyped for the GBA1 3′-UTR SNP (rs708606). Results Twenty-three patients (female = 13; on enzyme replacement therapy = 21, substrate reduction therapy = 2) with a mean age of 41.45 ± 15.3 years (range, 22–67) were included. Eight patients were found to be heterozygous for the 3′-UTR SNP (rs708606). Fourteen patients (8 over age 40 years) presented at least one NMS; daytime sleepiness was the most frequent ( n = 10). Two patients (aged 63 and 64, respectively) also presented motor symptoms, probably drug-related. Conclusions NMS were prevalent in this cohort. We highlight the importance of a multidisciplinary follow-up focusing on earlier diagnosis of PD, especially for patients with GD type 1 over the age of 40.

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“…Importantly, pre-test genetic counseling is important to help patient make informed decision to accept or decline testing [10]. The HCPs should take in consideration the patients' preference regarding genetic counseling [30] and should, at the same time, understand the patients' feelings upon receiving the results of the genetic test [31]. A recent study in the USA reported that patients were confident in HCPs' knowledge about genetics and would like to discuss these issues with them [7].…”

Section: Plos Onementioning

confidence: 99%

The difference in knowledge and concerns between healthcare professionals and patients about genetic-related issues: A questionnaire-based study

et al. 2020

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Effective adoption of genetics in clinical practice requires the support of and interaction between the different partners of healthcare system; healthcare professionals (HCPs) and patients. The study aimed to assess and compare the knowledge, factors affecting the knowledge, and concerns of HCPs and patients regarding genetic-related issues such as lack of knowledge about genetics and genetic conditions, awareness of the importance of genetics in clinical practice and genetic services and resources deficits. A cross sectional study was conducted in different areas of Jordan using a convenient sampling approach. An English questionnaire was self-administered to HCPs. Face-to-face interviews were conducted with patients in Arabic by trained researcher. A total of 1000 HCPs and 1448 patients were recruited. There was a significant difference (p<0.001) in the knowledge between HCPs and patients. Among HCPs, physicians (OR = 2.278, 95%CI = 1.410-3.680, p = 0.001) and pharmacists (OR = 2.163, 95%CI = 1.362-3.436, p = 0.001) were more knowledgeable than nurses. In addition, females were more knowledgeable than males (OR = 1.717, 95%CI = 1.203-2.451, p = 0.003). Among patients, participants who had a bachelor degree (OR = 1.579, 95%CI = 1.231-2.025, p<0.001) were more knowledgeable compared to those who only had school education. HCPs appeared to have more concerns than patients (p<0.001) regarding all genetic-related issues. These findings suggested a positive association between education and genetic knowledge as well as concerns; as HCPs were more knowledgeable and concerned than patients. Appropriate integration and expansion of basic genetic knowledge courses and clinical genetic training in the curriculum should be adopted to prepare HCPs to enhance the integration of genetic information in clinical settings.

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Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

Cited by 18 publications

References 14 publications

Counseling for personal health implications identified during reproductive genetic carrier screening

Counseling for personal health implications identified during reproductive genetic carrier screening

Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1

The difference in knowledge and concerns between healthcare professionals and patients about genetic-related issues: A questionnaire-based study

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