Do I Spit or Do I Pass?

This study explores privacy concerns perceived by people with respect to having their DNA tested by direct-to-consumer (DTC) genetic testing companies such as 23andMe and Ancestry.com. Data collected from 510 respondents indicate that those who have already obtained a DTC genetic test have significantly lower levels of privacy and security concerns than those who have not obtained a DTC genetic test. Qualitative data from respondents of both these groups show that the concerns are mostly similar. However, the factors perceived to alleviate privacy concerns are more varied and nuanced amongst those who have obtained a DTC genetic test. Our data suggest that privacy concerns or lack of concerns are based on complex and multiple considerations including data ownership, access control of data and regulatory authorities of social, political and legal systems. Respondents do not engage in a full cost/benefit analysis of having their DNA tested.

Exploratory content analysis of direct-to-consumer pet genomics: What is being marketed and what are consumers saying?

Mars Petcare introduced the first direct-to-consumer domestic dog genetic test in 2009 and Basepaws introduced the first direct-to-consumer cat genetic test in 2016. Social science research has evaluated numerous aspects of the human direct-to-consumer market, yet no such exploration has evaluated the occurrence of pet owners pursuing pet genetic tests. Using a mixed methods approach, we conducted an exploratory content analysis of direct-to-consumer pet genetic company webpages and consumer reviews shared on Amazon. Initial data reviews indicated some companies may be key industry players, relative to others. Our results present content frequency for each group (key industry players, all other companies), though the primary themes for each remained the same. Analysis showed genetic companies are primarily sharing product and purchasing information, along with trustworthiness to establish the merit of the company and their products. Companies also used statements directed towards pet owners that are suggestive of both pets and “pet parents” benefiting from the test results. The primary themes identified in consumer reviews involved consumers sharing their perception about the tests (e.g., accuracy), what aspects of the test results they focused on (e.g., breed information), and experiences with using the test (e.g., ease of use). Amazon reviews were primarily positive, though the companies with smaller review numbers had higher percentages of negative and ambiguous sentiments. Of interest, reviews most often indicated tests were being used to determine a pet’s breed identity, while companies most frequently promoted the health advantages of using their products. Reviews revealed some consumers respond to tests by sharing their pet’s results with someone or by altering their pet’s care. Considering these results in addition to the growing popularity of this industry and the advancements of genomic technology, further research is needed to determine the role pet genetic testing may have in society and on human-animal relationships.

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

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.

Variation of female pronucleus reveal oocyte or embryo abnormality: An expert experience deep learning of non-dark box analysis

Background: Pronuclear assessment appears to have the ability to distinguish good and bad embryos in the zygote stage,but paradoxical results were obtained in clinical studies.This situation might be caused by the robust qualitative detection of the development of dynamic pronuclei. Here,we aim to establish a quantitative pronuclear measurement method by applying expert experience deep learning from large annotated datasets. Methods: Convinced handle-annotated 2PN images(13419) were used for deep learning then corresponded errors were recorded through handle check for subsequent parameters adjusting. We used 790 embryos with 52479 PN images from 155 patients for analysis the area of pronuclei and the preimplantation genetic test results.Establishment of the exponential fitting equation and the key coefficient β1 was extracted from the model for quantitative analysis for pronuclear(PN) annotation and automatic recognition. Findings: Based on the female original PN coefficient β1,the chromosome normal rate in the blastocyst with biggest PN area is much higher than that of the blastocyst with smallest PN area(58.06% vs.45.16%, OR=1.68[1.07-2.64];P=0.031).After adjusting coefficient β1 by the first three frames which high variance of outlier PN areas was removed, coefficient β1 at 12 hours and at 14 hours post-insemination,similar but stronger evidence was obtained. All these discrepancies resulted from the female propositus in the PGT(SR) subgroup and smaller chromosomal errors. Conclusion(s): The results suggest that detailed analysis of the images of embryos could improve our understanding of developmental biology. Funding: None

629 CPVT and complete atrio-ventricular block: two faces of the same coin?

Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an electrical genetic disease characterized by induction of malignant ventricular arrhythmias during adrenergic stress in structurally normal hearts. CPVT is correlated to syncope or sudden cardiac death (SCD). Usually, it is caused by an autosomal dominant mutation in the cardiac ryanodine receptor (RyR2), an essential gene for Ca2+ homeostasis. Methods and results Our case series refers to: a man (59 years) who came to our attention for a clinical check-up 4 years after implanting bicameral pacemaker at the age of 55 years for complete AV block; and his three sons (E. female 27 years; D. male 25 years; and B. female 17 years) who had evidence of polymorphic non-sustained ventricular tachycardia (NSVT) with increasing effort during stress test. The three sons performed cardiac MRI and underwent genetic test. All three were found to be carriers of the same microdeletion of the RYR 2 gene (1q43- extended for about 49 kb) at the genetic test. They also have non-compacted myocardium at cardiac MRI. The father was also found to be a carrier of the same genetic microdeletion, while the mother was negative to the genetic test. The man was diagnosed to be a carrier of the mutation 4 years after pacemaker implantation. Conclusions Mutation of the RyR2 may have different phenotypic expressions and can be correlated to various clinical manifestations. CPVT is the most common one, and its prompt identification is crucial to prevent subjects from sport-related risks and to plan an efficient therapy. Our case series provides evidence for a careful consideration of such a genetic disorder even in presence of a major AV conduction disease in a relatively young subject. In the present case series, no major adverse events occurred. However, we can, in the aftermath, speculate that if a genetic disorder had been suspected when AV block occurred, a timely diagnosis could have been made earlier also for the sons.

172 Two mutations, one patient: which phenotype?

Methods and results Woman, 55 years old, she has as comorbidity high blood pressure and mild obesity. She came at our attention to perform screening cardiological exams after her brother, who was affected by amyloidotic TTR-related cardiomyopathy with Val30Met mutation, died for sudden cardiac death. At the first evaluation the patient is completely asymptomatic, she has not angor, dyspnoea and heartbeat. The ECG and echocardiography were negative for amyloidotic signs of heart involvement. The Tc-99-DPD scintigraphy showed no cardiac uptake (visual score = 0). To complete the diagnostic path the patient had been evaluated by a neurologist with electromyography, which was negative, and genetic test, which confirmed the presence of Val30Met mutation of TTR-gene. For this last outcome we decided to follow the patient at our clinics. In the following years the patient developed a progressive reduction of exercise tolerance and symmetric negative T waves in anterolateral and inferior lead at ECG. The echocardiogram showed a progressive medio-apical septal hypertrophy. To exclude an ischaemic cause the patient made a stress myocardial scintigraphy, which was negative for ischaemic signs, and she underwent to cardiac MRI which showed a septal thickness of 16 mm without amyloidotic radiological signs in T1-weighted and LGE sequences. For this reason, we suspected that the patient had a hypertrophic cardiomyopathy and she had been undergone another time to genetic test which confirmed the Val30Met TTR-mutation and MYBPC3 mutation. Usually, this last gene mutation for myosin binding protein C is associated with late-onset hypertrophic cardiomyopathy. Into account the new diagnosis and her sudden cardiac death family history we calculated the patient’s HCM-risk score which was under 4%, so that we did not undergo the patient to ICD implantation. Conclusions The case report is a rare example of coexistence of the transthyretin gene mutation and myosin binding protein C in the same patient. In this case to perform a correct diagnosis, it is crucial use an integrated multimodal approach including ECG, echocardiography and cardiac MRI.

A Multicenter Epidemiological Study on Second Malignancy in Non-Syndromic Pheochromocytoma/Paraganglioma Patients in Italy

No studies have carried out an extensive analysis of the possible association between non-syndromic pheochromocytomas and paragangliomas (PPGLs) and other malignancies. To assess the risk of additional malignancy in PPGL, we retrospectively evaluated 741 patients with PPGLs followed-up in twelve referral centers in Italy. Incidence of second malignant tumors was compared between this cohort and Italian patients with two subsequent malignancies. Among our patients, 95 (12.8%) developed a second malignant tumor, which were mainly prostate, colorectal and lung/bronchial cancers in males, breast cancer, differentiated thyroid cancer and melanoma in females. The standardized incidence ratio was 9.59 (95% CI 5.46–15.71) in males and 13.21 (95% CI 7.52–21.63) in females. At multivariable analysis, the risk of developing a second malignant tumor increased with age at diagnosis (HR 2.50, 95% CI 1.15–5.44, p = 0.021 for 50–59 vs. <50-year category; HR 3.46, 95% CI 1.67–7.15, p < 0.001 for >60- vs. <50-year). In patients with available genetic evaluation, a positive genetic test was inversely associated with the risk of developing a second tumor (HR 0.25, 95% CI 0.10–0.63, p = 0.003). In conclusion, PPGLs patients have higher incidence of additional malignant tumors compared to the general population who had a first malignancy, which could have an impact on the surveillance strategy.