scholarly journals Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review

Children ◽  
2021 ◽  
Vol 8 (4) ◽  
pp. 259
Author(s):  
Robin Z. Hayeems ◽  
Stephanie Luca ◽  
Daniel Assamad ◽  
Ayushi Bhatt ◽  
Wendy J. Ungar
Keyword(s):  
Genetic Testing ◽  
Child Health ◽  
Scoping Review ◽  
Genetic Test ◽  
Policy Decision ◽  
Management Domain ◽  
Genetic Test Results ◽  
Personal Utility ◽  
Post Test ◽  
Stakeholder Perspective

In genomics, perceived and personal utility have been proposed as constructs of value that include the subjective meanings and uses of genetic testing. Precisely what constitutes these constructs of utility and how they vary by stakeholder perspective remains unresolved. To advance methods for measuring the value of genetic testing in child health, we conducted a scoping review of the literature to characterize utility from the perspective of parents/caregivers. Peer reviewed literature that included empiric findings from parents/caregivers who received genetic test results for an index child and was written in English from 2016–2020 was included. Identified concepts of utility were coded according to Kohler’s construct of personal utility. Of 2142 abstracts screened, 33 met inclusion criteria. Studies reflected a range of genetic test types; the majority of testing was pursued for children with developmental or neurodevelopmental concerns. Coding resulted in 15 elements of utility that mapped to Kohler’s four domains of personal utility (affective, cognitive, behavioural and social) and one additional medical management domain. An adapted construct of utility for parents/caregivers may enable specific and standardized strategies for researchers to use to generate evidence of the post-test value of genetic testing. In turn, this will contribute to emerging methods for health technology assessment and policy decision making for genomics in child health.

Genetic counselling

2018 ◽  
Author(s):  
Jodie Ingles ◽  
Charlotte Burns ◽  
Laura Yeates
Keyword(s):  
Genetic Testing ◽  
Genetic Counselling ◽  
Psychosocial Care ◽  
Clinical Psychologist ◽  
Master's Level ◽  
Large Panels ◽  
Sequencing Technologies ◽  
Whole Exome ◽  
Genetic Test Results ◽  
Post Test

Cardiac genetic counselling is an emerging but important subspecialty. The qualifications of cardiac genetic counsellors depend on the country of practice, but at a minimum they are Master’s-level trained health professionals with expertise in genetics, and are integral members of the multidisciplinary inherited cardiovascular disease clinic. Though the framework is diverse in different countries, key roles include investigation and confirmation of family history details, discussion of inheritance risks and facilitation of cardiac genetic testing, communication with at-risk relatives, and increasingly, curation of genetic test results. The use of next-generation sequencing technologies has seen a recent shift in the uptake of genetic testing, due to greater availability and lowered costs. As these gene tests become more comprehensive, including large panels of genes and even whole exome or whole genome sequencing, the need for cardiac genetic counsellors to provide informed consent, appropriate pre- and post-test genetic counselling, and ongoing curation of the variants identified is evident. Finally, given the improved understanding of the psychological implications of living with a cardiovascular genetic disease, cardiac genetic counsellors are integral in delivering psychosocial care and identifying patients requiring intervention with a clinical psychologist.

Randomized trial of web-based genetic education versus usual care in advanced cancer patients undergoing tumor genetic testing: Results from the ECOG-ACRIN NCI Community Oncology Research Program (NCORP; EAQ152) COMET trial.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 2008-2008
Author(s):  
Angela R. Bradbury ◽  
Ju-Whei Lee ◽  
Jill B Gaieski ◽  
Shuli Li ◽  
Ilana F Gareen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Usual Care ◽  
Genetic Test ◽  
Genetic Knowledge ◽  
Test Results ◽  
Advanced Cancer Patients ◽  
Web Based ◽  
Genetic Test Results ◽  
Anxiety Depression ◽  
Web Intervention

2008 Background: Enthusiasm for precision oncology may obscure the complex psychosocial and ethical considerations for tumor genetic testing. Low patient genetic knowledge has been documented and heightens the risk for adverse experiences. We developed a web-based intervention to increase genetic knowledge and decrease distress among advanced cancer patients undergoing tumor genetic testing. Methods: 594 patients (80% from NCORP Community Sites) were recruited and randomized to web-intervention (n = 293) or usual care (n = 301), prior to receipt of tumor genetic test results. Primary outcomes were genetic knowledge, anxiety, depression, and cancer-specific distress measured at T0 (prior to intervention), T1 (post-intervention), T2 (after receipt of tumor results) and T3 (3 months post receipt of tumor results). Secondary outcomes included satisfaction, regret and disappointment. The effect of web-intervention was evaluated using t-test, multiple linear regression and logistic regression, with an intent-to-treat approach. Results: Patients randomized to web-intervention had better knowledge improvement than those randomized to usual care (T1-T0, p < 0.0001; T2-T0, p = 0.003). No difference was observed in change scores for anxiety, depression or cancer-specific distress. To find the moderators of intervention effect (including sex, age, education, and literacy) two 2-way interactions were noted with statistical significance: higher depression among those in the intervention arm versus the control arm for patients with lower literacy (p = 0.03); and lower cancer-specific distress among women in the intervention arm than with usual care but no such effect noted in men (p = 0.01). 71% of patients reported receiving tumor test results and this did not differ by arm. Only 20% of patients reported regret and disappointment at T2, which was more likely for those without a mutation of interest (MOI) detected vs those with a MOI detected (OR = 2.08, 95% CI, 1.13 to 3.83, p = 0.02). Conclusions: Web-based education prior to receipt of tumor genetic test results increases patient understanding of tumor genetic testing. While the intervention did not significantly reduce distress, results suggest that women who received the intervention had lower cancer-specific distress than those with usual care. Future refinements to the web-intervention are needed to address low literacy groups, men and patients with no actionable results. Clinical trial information: NCT02823652.

scholarly journals Case-finding and genetic testing for familial hypercholesterolaemia in primary care

Heart ◽  
2021 ◽  
pp. heartjnl-2021-319742
Author(s):  
Nadeem Qureshi ◽  
Ralph Kwame Akyea ◽  
Brittany Dutton ◽  
Steve E Humphries ◽  
Hasidah Abdul Hamid ◽  
...  
Keyword(s):  
Primary Care ◽  
Genetic Testing ◽  
Familial Hypercholesterolaemia ◽  
Genetic Test ◽  
Significant Proportion ◽  
Case Finding ◽  
Test Results ◽  
Family History Questionnaire ◽  
Increased Risk ◽  
Genetic Test Results

ObjectiveFamilial hypercholesterolaemia (FH) is a common inherited disorder that remains mostly undetected in the general population. Through FH case-finding and direct access to genetic testing in primary care, this intervention study described the genetic and lipid profile of patients found at increased risk of FH and the outcomes in those with positive genetic test results.MethodsIn 14 Central England general practices, a novel case-finding tool (Familial Hypercholetserolaemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86 219 patients with cholesterol readings (44.5% of total practices’ population), identifying 3375 at increased risk of FH. Of these, a cohort of 336 consenting to completing Family History Questionnaire and detailed review of their clinical data, were offered FH genetic testing in primary care.ResultsGenetic testing was completed by 283 patients, newly identifying 16 with genetically confirmed FH and 10 with variants of unknown significance. All 26 (9%) were recommended for referral and 19 attended specialist assessment. In a further 153 (54%) patients, the test suggested polygenic hypercholesterolaemia who were managed in primary care. Total cholesterol and low-density lipoprotein-cholesterol levels were higher in those patients with FH-causing variants than those with other genetic test results (p=0.010 and p=0.002).ConclusionElectronic case-finding and genetic testing in primary care could improve identification of FH; and the better targeting of patients for specialist assessment. A significant proportion of patients identified at risk of FH are likely to have polygenic hypercholesterolaemia. There needs to be a clearer management plan for these individuals in primary care.Trial registration numberNCT03934320.

scholarly journals Genetic testing for Parkinson disease

2020 ◽  
pp. 10.1212/CPJ.0000000000000831
Author(s):  
Lola Cook ◽  
Jeanine Schulze ◽  
Catherine Kopil ◽  
Tara Hastings ◽  
Anna Naito ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Parkinson Disease ◽  
Clinical Utility ◽  
Genetic Test ◽  
Genomic Testing ◽  
Test Results ◽  
Genetic Test Results ◽  
Genetic Status ◽  
Genetic Landscape ◽  
Busy Clinician

Purpose of reviewWith the advent of precision medicine and demand for genomic testing information, we may question whether it is time to offer genetic testing to our patients with Parkinson disease (PD). This review updates the current genetic landscape of PD, describes what genetic testing may offer, provides strategies for evaluating whom to test, and provides resources for the busy clinician.Recent findingsPatients with PD and their relatives, in various settings, have expressed an interest in learning their PD genetic status; however, physicians may be hesitant to widely offer testing due to the perceived low clinical utility of PD genetic test results. The rise of clinical trials available for patients with gene-specific PD and emerging information on genotype-phenotype correlations are starting to shift this discussion about testing.SummaryBy learning more about the various genetic testing options for PD and utility of results for patients and their care, clinicians may become more comfortable with widespread PD genetic testing in the research and clinical setting.

The positive impact of implementing an onsite guideline-based genetic testing procedure for prostate cancer in a multidisciplinary uro-oncology clinic.

2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 234-234
Author(s):  
Siddharth Ramanathan ◽  
Sadhna Ramanathan ◽  
Andrew Korman ◽  
Samer Ballouz ◽  
Michael Ghilezan ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Genetic Test ◽  
Positive Impact ◽  
Consensus Conference ◽  
Successful Implementation ◽  
Test Results ◽  
Genetic Test Results ◽  
To Receive

234 Background: Prior to the guidelines set forth by the 2017 Philadelphia consensus conference, genetic testing for prostate cancer was conducted based on personal and family history of malignancies pursuant to NCCN recommendations. The 2017 guidelines expanded testing criteria to included age at diagnosis, metastatic disease, and tumor sequencing. In spite of these advancements, limited literature is available regarding successful implementation of a streamlined system for genetic testing in prostate cancer. This paper explores the benefits of implementing an on-site guideline-based genetic testing process for prostate cancer patients treated at a multi-disciplinary uro-oncology practice. Methods: Data was retrospectively reviewed for 561 prostate cancer patients seen in a multi-disciplinary uro-oncology clinic since January 2017. Prior to January, 1, 2019 genetic testing was recommended to patients based on NCCN guidelines, and swabs for testing were procured off-site less than 1 mile from the clinic (n=107). After January, 1, 2019 genetic testing was recommended based on the guidelines set forth by the Philadelphia consensus conference, and swabs for testing were procured at the clinic itself (n=454). Results: A statistically significant increase in compliance with genetic testing was observed after the implementation of an on-site, guideline-based testing process. Patient compliance with genetic testing increased from 33.6% to 96.5%. The time to receive the genetic test results (calculated as the time between referral for genetic testing and obtaining the test results) was also significantly improved from 38 days to 21 days. Conclusions: The implementation of an on-site, guideline-based genetic testing model for prostate cancer patients significantly improved compliance with genetic testing to 96.5% and decreased the time to receive genetic test results by 17 days. Overall, adopting a guide-line based model with on-site genetic testing has the potential to significantly improve the detection rate for pathogenic and actionable mutations, increase the utilization of targeted therapies, and increase cascade testing to include at-risk family members.

Integration of germline multigene panel testing into breast and gynecologic oncology clinics.

2021 ◽  
Vol 39 (28_suppl) ◽  
pp. 164-164
Author(s):  
Mariella Tejada ◽  
June YiJuan Hou ◽  
Katherine D. Crew ◽  
Melissa Kate Accordino ◽  
Kevin Kalinsky ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Genetic Testing ◽  
Clinical Decision Making ◽  
Genetic Test ◽  
Gynecologic Oncology ◽  
Clinical Decision ◽  
Test Results ◽  
Panel Testing ◽  
Genetic Test Results

164 Background: Germline genetic testing plays an important role in informing cancer screening and risk-reducing strategies, as well as treatment decisions with PARP inhibitors for BRCA-associated malignancies. Referrals to clinical genetics for pre-test counseling and results disclosure can be delayed due to financial and logistical barriers, which may ultimately delay clinical decision-making. Our study objective was to understand patient attitudes, knowledge, and anxiety/distress with point-of-care (POC) genetic testing in breast and gynecologic oncology clinics. Methods: We enrolled patients with early-stage breast cancer undergoing neoadjuvant treatment, metastatic breast cancer, ovarian cancer, or endometrial cancer undergoing POC multigene panel testing with their primary oncologist, rather than a genetic counselor. Pre-test counseling came from discussion with their primary oncologist. Participants completed a survey at time of genetic testing and one after return of genetic test results. Validated measures of genetic testing knowledge, cancer-related distress, and attitudes towards genetic testing were included. Descriptive statistics were generated for all data collected and paired t-tests were conducted for baseline and follow-up comparisons. Results: We enrolled 106 subjects, of which 97 completed the baseline survey. All participants were female with a mean age of 61.5 years (SD 13.5). The cohort consisted of participants with the following tumor types: 80 breast, 2 ovarian, and 16 endometrial. Almost 44% of women identified as Hispanic/Latina, 55% had highest level of education of community/technical college or less, and 51.2% reported annual incomes of less than $50,000. Forty-seven percent of participants had adequate baseline genetic testing knowledge scores (defined as at least 50% correct responses). A majority of participants (86.6%) had positive attitudes toward undergoing genetic testing. Results of genetic testing revealed 11 participants (11.3%) with pathogenic or likely pathogenic variants (of which 36.3% were in BRCA1/2), 25 (25.8%) with variants of unknown significance (VUS), and 61 (62.9%) with benign or likely benign results. The mean cancer-related distress score (scale from 15 to 60, higher score indicates higher levels of distress) was 32.78 (SD 9.74) at baseline and 26.5 (SD 8.9) after receiving genetic testing results (p = 0.002). Genetic test results informed cancer treatment decisions regarding medications and surgery in 15% and 13% of patients, respectively, the majority of which were breast cancer patients. Conclusions: As genetic testing is more frequently used for clinical decision-making it is important to develop ways to efficiently integrate POC testing in the oncology clinics. We demonstrated that POC genetic testing for breast and gynecologic cancers is feasible and can inform clinical decision-making.

Genetic counselling

ESC CardioMed ◽  
2018 ◽  
pp. 662-665
Author(s):  
Laura Yeates ◽  
Charlotte Burns ◽  
Jodie Ingles
Keyword(s):  
Genetic Testing ◽  
Genetic Counselling ◽  
Psychosocial Care ◽  
Clinical Psychologist ◽  
Master's Level ◽  
Large Panels ◽  
Sequencing Technologies ◽  
Whole Exome ◽  
Genetic Test Results ◽  
Post Test

Cardiac genetic counselling is an important subspecialty. The qualifications of cardiac genetic counsellors depend on the country of practice, but at a minimum they are Master’s-level trained health professionals with expertise in genetics, and are integral members of the multidisciplinary inherited cardiovascular disease clinic. Though the framework is diverse in different countries, key roles include investigation and confirmation of family history details, discussion of inheritance risks and facilitation of cardiac genetic testing, communication with at-risk relatives, and increasingly, curation of genetic test results. The increasing use of next-generation sequencing technologies has seen a shift in the uptake of genetic testing, due to greater availability and lowered costs. As these gene tests become more comprehensive, including large panels of genes and increasingly whole exome or whole genome sequencing, the need for cardiac genetic counsellors to provide informed consent, appropriate pre- and post-test genetic counselling, and ongoing curation of the variants identified is evident. Finally, given the improved understanding of the psychological implications of living with a cardiovascular genetic disease, cardiac genetic counsellors are integral in delivering psychosocial care and identifying patients requiring intervention with a clinical psychologist.

scholarly journals Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Julie Hathaway ◽  
Krista Heliö ◽  
Inka Saarinen ◽  
Jonna Tallila ◽  
Eija H. Seppälä ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Diagnostic Yield ◽  
Positive Family History ◽  
Copy Number Variant ◽  
Clinical Suspicion ◽  
Maximum Wall Thickness ◽  
Genetic Test Results ◽  
Inherited Arrhythmia ◽  
Genes Encoding ◽  
Post Test

Abstract Background Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. Our goal was to evaluate the diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of HCM, referred for genetic testing from multiple centers around the world. Methods A retrospective review of patients with a suspected clinical diagnosis of HCM referred for genetic testing at Blueprint Genetics was undertaken. The analysis included syndromic, myopathic and metabolic etiologies. Genetic test results and variant classifications were extracted from the database. Variants classified as pathogenic (P) or likely pathogenic (LP) were considered diagnostic. Results A total of 1376 samples were analyzed. Three hundred and sixty-nine tests were diagnostic (26.8%); 373 P or LP variants were identified. Only one copy number variant was identified. The majority of diagnostic variants involved genes encoding the sarcomere (85.0%) followed by 4.3% of diagnostic variants identified in the RASopathy genes. Two percent of diagnostic variants were in genes associated with a cardiomyopathy other than HCM or an inherited arrhythmia. Clinical variables that increased the likelihood of identifying a diagnostic variant included: an earlier age at diagnosis (p < 0.0001), a higher maximum wall thickness (MWT) (p < 0.0001), a positive family history (p < 0.0001), the absence of hypertension (p = 0.0002), and the presence of an implantable cardioverter-defibrillator (ICD) (p = 0.0004). Conclusion The diagnostic yield of genetic testing in this heterogeneous cohort of patients with a clinical suspicion of HCM is lower than what has been reported in well-characterized patient cohorts. We report the highest yield of diagnostic variants in the RASopathy genes identified in a laboratory cohort of HCM patients to date. The spectrum of genes implicated in this unselected cohort highlights the importance of pre-and post-test counseling when offering genetic testing to the broad HCM population.

scholarly journals Examining the Clinical Use of Hemochromatosis Genetic Testing

2015 ◽  
Vol 29 (1) ◽  
pp. 41-45 ◽  
Author(s):  
Matthew B Lanktree ◽  
Bruce B Lanktree ◽  
Guillaume Paré ◽  
John S Waye ◽  
Bekim Sadikovic ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Iron Overload ◽  
Genetic Test ◽  
Hereditary Hemochromatosis ◽  
Transferrin Saturation ◽  
Significant Proportion ◽  
Elevated Serum ◽  
Clinical Indication ◽  
Biochemical Evidence ◽  
Genetic Test Results

BACKGROUND: Hereditary hemochromatosis leads to an increased lifetime risk for end-organ damage due to excess iron deposition. Guidelines recommend that genetic testing be performed in patients with clinical suspicion of iron overload accompanied by elevated serum ferritin and transferrin saturation levels.OBJECTIVE: To evaluate guideline adherence and the clinical and economic impact ofHFEgenetic testing.METHODS: The electronic charts of patients submitted forHFEtesting in 2012 were reviewed for genetic testing results, biochemical markers of iron overload and clinical history of phlebotomy.RESULTS: A total of 664 samples were sent for testing, with clinical, biochemical and phlebotomy data available for 160 patients. A positive C282Y homozygote or C282Y/H63D compound heterozygote test result was observed in 18% of patients. Patients with an at-riskHFEgenotype had significantly higher iron saturation, serum iron and hemoglobin (P<0.001), without higher ferritin or liver enzyme levels. Fifty percent of patients referred for testing did not have biochemical evidence of iron overload (transferrin saturation >45% and ferritin level >300 μg/L). Patients were four times more likely to undergo phlebotomy if they were gene test positive (RR 4.29 [95% CI 2.35 to 7.83]; P<0.00001).DISCUSSION: One-half of patients referred for testing did not exhibit biochemical evidence of iron overload. Many patients with biochemical evidence of iron overload, but with negative genetic test results, did not undergo phlebotomy. A requisition to determine clinical indication for testing may reduce the use of theHFEgenetic test. Finally, improvement of current genetic test characteristics would improve rationale for the test.CONCLUSION: A significant proportion of hemochromatosis genetic testing does not adhere to current guidelines and would not alter patient management.

Sign in / Sign up

Export Citation Format

Share Document