scholarly journals The FDA authorization of direct-to-consumer genetic testing for three BRCA1/2 pathogenic variants: a twitter analysis of the public’s response

JAMIA Open ◽  
2019 ◽  
Vol 2 (4) ◽  
pp. 411-415 ◽  
Author(s):  
Megan C Roberts ◽  
Caitlin G Allen ◽  
Brittany L Andersen
Keyword(s):  
Social Media ◽  
Genetic Testing ◽  
Information Exchange ◽  
Genetic Test ◽  
Direct To Consumer ◽  
Long Period ◽  
Pathogenic Variants ◽  
Personal Experiences ◽  
Genetic Technologies ◽  
Twitter Analysis

Abstract Objectives In March 2018, the Food and Drug Administration (FDA) announced its authorization of a direct-to-consumer (DTC) genetic test for three pathogenic BRCA1/2 variants. We sought to determine to whether social media discussion increased following the authorization, who was driving social media conversations, and what topics were discussed. Methods Using Crimson Hexagon, we described tweets before, during, and after the FDA announcement authorizing 23andMe to return BRCA1/2 results (3/4/18–3/10/18). We conducted qualitative coding of a subset of 605 tweets to better understand Twitter communication. Results We identified 11 055 twitter posts across the week of FDA’s announcement. Twitter discourse about 23andMe and the FDA authorization peaked the day following the FDA’s press release. Most tweets (48.6%) were informational and 26.3% were either expressing opinions (about 23andMe and/or FDA authorization, 14.9%) or testimonials (personal experiences with genetic testing, 11.4%). The types of tweets varied over the week-long period (P <  .001). Discussion Twitter discussion about the FDA’s authorization of DTC for three pathogenic BRCA1/2 variants increased immediately following the announcement. As more genetic technologies are brought to the DTC market, social media sites, like Twitter, will play a role in disseminating this information, providing a platform for information exchange, consumer testimonials, opinion pieces, and research.

Breast cancer treatment according to pathogenic variants in cancer susceptibility genes in a population-based cohort.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 560-560 ◽  
Author(s):  
Allison W. Kurian ◽  
Kevin C. Ward ◽  
Paul Abrahamse ◽  
Ann S Hamilton ◽  
Dennis Deapen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Genetic Test ◽  
Cancer Susceptibility ◽  
Population Based ◽  
Susceptibility Genes ◽  
Breast Cancer Treatment ◽  
Pathogenic Variants ◽  
Cancer Susceptibility Genes ◽  
To Receive

560 Background: Increasing use of germline genetic testing may have unintended consequences on breast cancer treatment. We do not know whether treatment deviates from guidelines for women with pathogenic variants (PV) in cancer susceptibility genes. Methods: SEER data for all women aged ≥20 years, diagnosed with breast cancer in 2014-15 and reported to Georgia and California registries (N = 77,588) by December 1, 2016 were linked to germline genetic testing results from 4 laboratories that did nearly all clinical testing. We examined first course of therapy (before recurrence or progression) of stage < IV patients who linked to a genetic test: bilateral mastectomy (BLM) in candidates for surgery (unilateral, stages 0-III); post-lumpectomy radiation in those with an indication (all but age ≥70, stage I, hormone receptor (HR)-positive and HER2-negative); and chemotherapy in those without a definitive indication (stage I-II, HR-positive, HER2-negative and 21-gene recurrence score < 30). We report the percent treated based on multivariable modeling, adjusted for age, race, stage, grade, insurance and socioeconomic status. Results: The table shows that 9% of patients who linked to a genetic test result had a PV (N = 1,283). Compared to women with negative results,women with BRCA1/2 PVs were more likely to receive BLM, more likely to receive chemotherapy without definitive indication, and less likely to receive indicated radiation in their first course of therapy. Lower-magnitude effects were seen with other PVs but not variants of uncertain significance (VUS). Conclusions: In a population-based setting, women with PVs in BRCA1/2 or other cancer susceptibility genes may have a higher risk of receiving locoregional and systemic treatment that does not follow guidelines. [Table: see text]

scholarly journals Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Mary E. Velthuizen ◽  
Rob B. van der Luijt ◽  
Beja J. de Vries ◽  
Marco J. Koudijs ◽  
Eveline M. A. Bleiker ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Genetic Test ◽  
Pathogenic Variant ◽  
Control Group ◽  
Breast Cancer Patients ◽  
Psychosocial Burden ◽  
Written Information ◽  
Pathogenic Variants ◽  
Informed Consent Form

Abstract Background CHEK2 has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a BRCA1/2 gene germline pathogenic variant may benefit from additional genetic testing for the CHEK2 c.1100del pathogenic variant. The aims of this study were: 1) to assess the uptake of an active approach by recontacting BRCA1/2-negative women for additional CHEK2 c.1100del testing on stored DNA-samples and 2) to explore patients’ experiences with this approach. Methods Between 2015 and 2017, women who had been tested earlier negative for BRCA1/2 germline pathogenic variants, were recontacted for additional CHEK2 c.1100del testing on stored DNA-samples, free-of-charge. They received an information letter about the CHEK2 pathogenic variant and could return an informed consent form when they opted for additional genetic testing. Those in whom the CHEK2 pathogenic variant was absent, received a letter describing this result. Those who tested positive, were invited for a personal counseling at the department of genetics. On average 21 months (range 4–27) after the genetic test result, a questionnaire was sent to all identified carriers and a control group of women who tested negative for the pathogenic variant to explore patients’ experiences with our approach. Results In total, 70% (N = 1666) of the N = 2377 women contacted opted for additional testing, and 66 (4%) of them proved to be carriers of the CHEK2 c.1100del pathogenic variant. Regardless of the outcome of the genetic test, women were generally satisfied with our approach and reported that the written information was sufficient to make an informed decision about the additional CHEK2 testing. Conclusions The uptake (70%) of our approach was considered satisfactory. Patients considered the benefits more important than the psychosocial burden. Given the rapid developments in DNA-diagnostics, our findings may support future initiatives to recontact patients about additional genetic testing when they previously tested negative for a pathogenic variant in a breast cancer gene.

scholarly journals The Symptom Discounting Effect : What to Do When Negative Genetic Test Results Become Risk Factors for Alcohol Use Disorder

2021 ◽  
Author(s):  
woo-kyoung ahn ◽  
Annalise Perricone
Keyword(s):  
Genetic Testing ◽  
Alcohol Use ◽  
Alcohol Use Disorder ◽  
Genetic Test ◽  
Test Results ◽  
Markov Condition ◽  
Problematic Drinking ◽  
Direct To Consumer ◽  
Genetic Test Results ◽  
Testing Company

Abstract Most consumers of genetic testing for health conditions test negative, yet the psychological perils of this are hardly known. In three experiments (N=2,103) participants discounted repercussions of Alcohol Use Disorder (AUD), after learning or imagining that they were not genetically predisposed to AUD. Such discounting can lead people to avoid treatment and to feel safe to continue or even increase their drinking, ironically turning the negative genetic feedback into a risk factor for AUD. This misconception derives from not understanding the Causal Markov condition as applied to this case; once AUD symptoms are present, their ramifications remain the same regardless of whether genes or environments caused the symptoms. Educating participants about this principle mitigated the irrational discounting of threats of AUD, even among Individuals already engaging in problematic drinking, for whom the debriefing currently used by a direct-to-consumer genetic testing company was found to be ineffective in the current study.

scholarly journals Assessing the analytical validity of SNP-chips for detecting very rare pathogenic variants: implications for direct-to-consumer genetic testing

2019 ◽  
Author(s):  
Michael N Weedon ◽  
Leigh Jackson ◽  
James W Harrison ◽  
Kate S Ruth ◽  
Jessica Tyrrell ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Genetic Variants ◽  
Rare Variants ◽  
Uk Biobank ◽  
Sequencing Data ◽  
Snp Chip ◽  
Direct To Consumer ◽  
Pathogenic Variants ◽  
Variant Frequency ◽  
The Uk

ABSTRACTObjectivesTo determine the analytical validity of SNP-chips for genotyping very rare genetic variants.DesignRetrospective study using data from two publicly available resources, the UK Biobank and the Personal Genome Project.SettingResearch biobanks and direct-to-consumer genetic testing in the UK and USA.Participants49,908 individuals recruited to UK Biobank, and 21 individuals who purchased consumer genetic tests and shared their data online via the Personal Genomes Project.Main outcome measuresWe assessed the analytical validity of genotypes from SNP-chips (index test) with sequencing data (reference standard). We evaluated the genotyping accuracy of the SNP-chips and split the results by variant frequency. We went on to select rare pathogenic variants in the BRCA1 and BRCA2 genes as an exemplar for detailed analysis of clinically-actionable variants in UK Biobank, and assessed BRCA-related cancers (breast, ovarian, prostate and pancreatic) in participants using cancer registry data.ResultsSNP-chip genotype accuracy is high overall; sensitivity, specificity and precision are all >99% for 108,574 common variants directly genotyped by the UK Biobank SNP-chips. However, the likelihood of a true positive result reduces dramatically with decreasing variant frequency; for variants with a frequency <0.001% in UK Biobank the precision is very low and only 16% of 4,711 variants from the SNP-chips confirm with sequencing data. Results are similar for SNP-chip data from the Personal Genomes Project, and 20/21 individuals have at least one rare pathogenic variant that has been incorrectly genotyped. For pathogenic variants in the BRCA1 and BRCA2 genes, the overall performance metrics of the SNP-chips in UK Biobank are sensitivity 34.6%, specificity 98.3% and precision 4.2%. Rates of BRCA-related cancers in individuals in UK Biobank with a positive SNP-chip result are similar to age-matched controls (OR 1.28, P=0.07, 95% CI: 0.98 to 1.67), while sequence-positive individuals have a significantly increased risk (OR 3.73, P=3.5×10−12, 95% CI: 2.57 to 5.40).ConclusionSNP-chips are extremely unreliable for genotyping very rare pathogenic variants and should not be used to guide health decisions without validation.SUMMARY BOXSection 1: What is already known on this topicSNP-chips are an accurate and affordable method for genotyping common genetic variants across the genome. They are often used by direct-to-consumer (DTC) genetic testing companies and research studies, but there several case reports suggesting they perform poorly for genotyping rare genetic variants when compared with sequencing.Section 2: What this study addsOur study confirms that SNP-chips are highly inaccurate for genotyping rare, clinically-actionable variants. Using large-scale SNP-chip and sequencing data from UK Biobank, we show that SNP-chips have a very low precision of <16% for detecting very rare variants (i.e. the majority of variants with population frequency of <0.001% are false positives). We observed a similar performance in a small sample of raw SNP-chip data from DTC genetic tests. Very rare variants assayed using SNP-chips should not be used to guide health decisions without validation.

scholarly journals Social Media Content About Children’s Pain and Sleep: Content and Network Analysis (Preprint)

2018 ◽  
Author(s):  
Michelle E Tougas ◽  
Christine T Chambers ◽  
Penny Corkum ◽  
Julie M Robillard ◽  
Anatoliy Gruzd ◽  
...  
Keyword(s):  
Social Media ◽  
Network Analysis ◽  
Child Health ◽  
Information Exchange ◽  
Research Evidence ◽  
Specific Information ◽  
User Engagement ◽  
User Interactions ◽  
Personal Experiences ◽  
Children's Pain

BACKGROUND Social media is often used for health communication and can facilitate fast information exchange. Despite its increasing use, little is known about child health information sharing and engagement over social media. OBJECTIVE The primary objectives of this study are to systematically describe the content of social media posts about child pain and sleep and identify the level of research evidence in these posts. The secondary objective is to examine user engagement with information shared over social media. METHODS Twitter, Instagram, and Facebook were searched by members of the research team over a 2-week period using a comprehensive search strategy. Codes were used to categorize the content of posts to identify the frequency of content categories shared over social media platforms. Posts were evaluated by content experts to determine the frequency of posts consistent with existing research evidence. User engagement was analyzed using Netlytic, a social network analysis program, to examine visual networks illustrating the level of user engagement. RESULTS From the 2-week period, nearly 1500 pain-related and 3800 sleep-related posts were identified and analyzed. Twitter was used most often to share knowledge about child pain (639/1133, 56.40% of posts), and personal experiences for child sleep (2255/3008, 75.00% of posts). For both topics, Instagram posts shared personal experiences (53/68, 78% pain; 413/478, 86.4% sleep), Facebook group posts shared personal experiences (30/49, 61% pain; 230/345, 66.7% sleep) and Facebook pages shared knowledge (68/198, 34.3% pain; 452/1026, 44.05% sleep). Across platforms, research evidence was shared in 21.96% (318/1448) of pain- and 9.16% (445/4857) of sleep-related posts; 5.38% (61/1133) of all pain posts and 2.82% (85/3008) of all sleep posts shared information inconsistent with the evidence, while the rest were absent of evidence. User interactions were indirect, with mostly one-way, rather than reciprocal conversations. CONCLUSIONS Social media is commonly used to discuss child health, yet the majority of posts do not contain research evidence, and user engagement is primarily one-way. These findings represent an opportunity to expand engagement through open conversations with credible sources. Research and health care communities can benefit from incorporating specific information about evidence within social media posts to improve communication with the public and empower users to distinguish evidence-based content better. Together, these findings have identified potential gaps in social media communication that may be informative targets to guide future strategies for improving the translation of child health evidence over social media.

scholarly journals Personalized Genetic Testing and Norovirus Susceptibility

2014 ◽  
Vol 25 (4) ◽  
pp. 222-224 ◽  
Author(s):  
Natalie Prystajecky ◽  
Fiona SL Brinkman ◽  
Brian Auk ◽  
Judith L Isaac-Renton ◽  
Patrick Tang
Keyword(s):  
Genetic Testing ◽  
Nonsense Mutation ◽  
Genetic Test ◽  
Present Report ◽  
Viral Pathogen ◽  
Genetic Traits ◽  
The Public ◽  
Direct To Consumer ◽  
Genetic Test Results ◽  
Novel Associations

BACKGROUND: The availability of direct-to-consumer personalized genetic testing has enabled the public to access and interpret their own genetic information. Various genetic traits can be determined including resistance to norovirus through a nonsense mutation (G428A) in theFUT2gene. Although this trait is believed to confer resistance to the most dominant norovirus genotype (GII.4), the spectrum of resistance to other norovirus strains is unknown. The present report describes a cluster of symptomatic norovirus GI.6 infection in a family identified to have norovirus resistance through personalized genetic testing.CASE PRESENTATION: In January 2013, four members of a family determined by a direct-to-consumer genetic test to be homozygous for the norovirus resistance trait (A/A genotype for single nucleotide polymorphism rs601338) developed symptoms consistent with acute viral gastroenteritis. Stool and vomitus samples were submitted for enteric viral pathogen testing. Samples were positive for norovirus GI.6 in three of the four cases.CONCLUSIONS: The present report is the first to describe norovirus GI.6 infection in patients with the G428A nonsense mutation inFUT2; this cluster of cases suggests that the G428A mutation inFUT2may not confer resistance to norovirus GI.6. Direct-to-consumer genetic testing is empowering members of the public to identify novel associations with their genetic traits. Expert consultation is important for the interpretation of personalized genetic test results, and follow-up laboratory testing can confirm any potentially novel associations.

scholarly journals Implications of Multigene Panel Testing on Psychosocial Outcomes: A Comparison of Patients With Pancreatic and Breast or Ovarian Cancer

2021 ◽  
pp. 235-244
Author(s):  
Cathryn Koptiuch ◽  
Whitney F. Espinel ◽  
Wendy K. Kohlmann ◽  
Jingsong Zhao ◽  
Kimberly A. Kaphingst
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Genetic Test ◽  
Emotional Reactions ◽  
Test Results ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Genetic Test Results ◽  
Multigene Panel Testing ◽  
Multigene Panel

PURPOSE National Comprehensive Cancer Network guidelines for germline genetic testing have included pancreatic cancer in the context of additional family cancer history for many years but this was not recommended for patients with pancreatic ductal adenocarcinoma (PDAC) independent of a family history until 2019. This hypothesis-generating study reports the results from multigene panel testing for PDAC patients at an academic medical center. PATIENTS AND METHODS This prospective longitudinal feasibility study examined responses to genetic counseling and multigene panel testing among PDAC and breast or ovarian cancer (BrOv) patients between October 2016 and November 2017. Pre- and post-test surveys assessed perceptions of genetic risk and testing, recall, comprehension, and emotional reactions to results using open-ended and closed-ended items. RESULTS Forty-six BrOv and 33 PDAC patients were enrolled, and 44 BrOv and 31 PDAC participants underwent genetic testing. Seven pathogenic variants were identified in six BrOv participants (13.6%), and three pathogenic variants were identified in three PDAC participants (9.7%). The majority of both cohorts expressed similar attitudes about the importance of genetic testing for their personal and family medical management and expressed accurate understanding of implications of their results. Although sample size was small, there were no significant differences between the BrOv and PDAC cohorts for positive or negative emotions. CONCLUSION This study points to high rates of positive emotions and low rates of negative emotions following genetic test results, suggesting that the emotional reactions to genetic test results are similar for patients with BrOv and PDAC, despite poor prognosis with PDAC diagnoses. Because of the unique needs of the PDAC population following diagnosis, a multidisciplinary approach to germline genetic testing following diagnosis may result in best patient and family member outcomes.

Adherence to breast cancer treatment guidelines according to pathogenic variants in cancer susceptibility genes in a population-based cohort.

2019 ◽  
Vol 37 (27_suppl) ◽  
pp. 34-34
Author(s):  
Steven J. Katz ◽  
Monica Morrow ◽  
Allison W. Kurian
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Genetic Test ◽  
Cancer Susceptibility ◽  
Population Based ◽  
Susceptibility Genes ◽  
Breast Cancer Treatment ◽  
Pathogenic Variants ◽  
Cancer Susceptibility Genes ◽  
To Receive

34 Background: Increasing use of germline genetic testing may have unintended consequences on breast cancer treatment. We do not know whether treatment deviates from guidelines for women with pathogenic variants (PV) in cancer susceptibility genes. Methods: SEER data for all women aged ≥20 years, diagnosed with breast cancer in 2014-15 and reported to Georgia and California registries (N=77,588) by December 1, 2016 were linked to germline genetic testing results from 4 laboratories that did nearly all clinical testing. We examined first course of therapy of stage <IV patients who linked to a genetic test: bilateral mastectomy (BLM) in candidates for surgery (unilateral, stages 0-III); post-lumpectomy radiation in those with an indication (all but age ≥70, stage I, hormone receptor (HR)-positive and HER2-negative); and chemotherapy in those without definitive indication (stage I-II, HR-positive, HER2-negative and 21-gene recurrence score <30). We report the percent treated based on multivariable modeling, adjusted for age, race, stage, grade, insurance and socioeconomic status. Results: The table shows that 9% of patients who linked to a genetic test result had a PV (N=1,283). Compared to women with negative results, those with BRCA1/2 PVs were more likely to receive BLM, more likely to receive chemotherapy without definitive indication, and less likely to receive indicated radiation as initial treatment. Lower-magnitude effects were seen with other PVs but not variants of uncertain significance (VUS). Conclusions: In a population-based setting, women with PVs in BRCA1/2 or other cancer susceptibility genes may have higher risk of receiving locoregional and systemic treatment that does not follow guidelines. [Table: see text]

Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Emily Breidbart ◽  
Liyong Deng ◽  
Patricia Lanzano ◽  
Xiao Fan ◽  
Jiancheng Guo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Exome Sequencing ◽  
Large Scale ◽  
Age Of Onset ◽  
Family Members ◽  
Ethnically Diverse ◽  
Monogenic Diabetes ◽  
Diabetes Diagnosis ◽  
Pathogenic Variants ◽  
Atypical Diabetes

Abstract Objectives There have been few large-scale studies utilizing exome sequencing for genetically undiagnosed maturity onset diabetes of the young (MODY), a monogenic form of diabetes that is under-recognized. We describe a cohort of 160 individuals with suspected monogenic diabetes who were genetically assessed for mutations in genes known to cause MODY. Methods We used a tiered testing approach focusing initially on GCK and HNF1A and then expanding to exome sequencing for those individuals without identified mutations in GCK or HNF1A. The average age of onset of hyperglycemia or diabetes diagnosis was 19 years (median 14 years) with an average HbA1C of 7.1%. Results Sixty (37.5%) probands had heterozygous likely pathogenic/pathogenic variants in one of the MODY genes, 90% of which were in GCK or HNF1A. Less frequently, mutations were identified in PDX1, HNF4A, HNF1B, and KCNJ11. For those probands with available family members, 100% of the variants segregated with diabetes in the family. Cascade genetic testing in families identified 75 additional family members with a familial MODY mutation. Conclusions Our study is one of the largest and most ethnically diverse studies using exome sequencing to assess MODY genes. Tiered testing is an effective strategy to genetically diagnose atypical diabetes, and familial cascade genetic testing identified on average one additional family member with monogenic diabetes for each mutation identified in a proband.

Sign in / Sign up

Export Citation Format

Share Document