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The COVID-19 pandemic has led to the rapid adoption of virtual clinic processes and healthcare delivery. Herein, we examine the impact of virtualising genetics services at Canada's largest cancer centre. A retrospective review was...
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The COVID-19 pandemic has led to the rapid adoption of virtual clinic processes and healthcare delivery. Herein, we examine the impact of virtualising genetics services at Canada's largest cancer centre. A retrospective review was conducted to evaluate relevant metrics during the 12 weeks prior to and during virtual care, including referral and clinic volumes, patient wait times and genetic testing uptake. The number of appointments and new patients seen were maintained during virtual care. Likewise, there was a significant increase in the number of patients offered testing during virtual care who did not provide a blood sample (176/180 (97.7%) vs 180/243 (74.1%); p<0.001), and a longer median time from the date of pretest genetic counselling to the date a sample was given (0 vs 11 days; p<0.001). Referral volumes significantly decreased during virtual care (35 vs 22; p<0.001), which was accompanied by a decreased median wait time for first appointment (55 days vs 30 days; p<0.001). The rapid virtualisation of cancer genetic services allowed the genetics clinic to navigate the COVID-19 pandemic without compromising clinical volumes or access to genetic testing. There was a decrease in referral volumes and uptake of genetic testing, which may be attributable to pandemic-related clinical restrictions.
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Psychosis, like other major psychiatric disorders, is both genetically and clinically complex. Increasingly powerful molecular genetic studies have the potential to identify DNA variation that influences susceptibility to genetica...
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Psychosis, like other major psychiatric disorders, is both genetically and clinically complex. Increasingly powerful molecular genetic studies have the potential to identify DNA variation that influences susceptibility to genetically complex disorders. There is a need to use a range of genetic approaches appropriate to identifying a spectrum of risk variants from the common through to the rare. Some variants might have large effects at the level of the individual but most are likely to have modest or small effects at both population and individual level. Extensive clinical heterogeneity is likely to have a significant impact on the power of even the largest studies and, more importantly, will lead to extensive variability between studies and hamper attempts at replication. If we are to realise the potential of molecular genetics, we need to overcome the major limitations imposed by current psychiatric diagnostic classifications and identify clinical phenotypes that reflect the presence of underlying entities with biological validity.
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South Africa is a developing middle-income country with a population of over 49 million people. It has a health system, based on national, provincial and private health programmes, which is in transition. There are well organised ...
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South Africa is a developing middle-income country with a population of over 49 million people. It has a health system, based on national, provincial and private health programmes, which is in transition. There are well organised but small genetic services, based mostly in academic centres, provincial health departments and the National Health Laboratory Service. Trained medical geneticists, genetic counsellors and medical scientists are available to deliver the service. Funding for this service is limited, due partly to the extensive demands made by the rampant HIV/AIDS epidemic (which has lead to a falling life expectancy, and increasing maternal, child and infant mortality rates) and partly due to some ignorance, among both health professionals and the public, concerning the benefits of genetic counselling and testing in affected families. There are four academic human genetics departments across the country providing counselling (7,313 cases were counselled in 2008), testing services (16,073 genetic tests were performed in 2008) and professional training. They also undertake research. Only one tenth of the required staff, according to the WHO recommendations, is available at present to provide these services, and further employment opportunities are urgently required. However, training of professionals continues, comprehensive genetic testing facilities are available, research on many of the genetic conditions of specific concern to the country has been and is being undertaken, and patients from all over Southern and Central Africa make use of these services.
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The article engages current human population genetic research or anthropological genetics with an emphasis on its popular forms. A general discussion of the production of biohistories on the basis of DNA analyses is elaborated by ...
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The article engages current human population genetic research or anthropological genetics with an emphasis on its popular forms. A general discussion of the production of biohistories on the basis of DNA analyses is elaborated by focusing on what I call the Genographic network: the Genographic Project and the associated genetic ancestry companies as well as book and film productions. In order to gain an understanding of the specificity of what is also referred to as genetic history, the development of notions such as a genetic heritage, the gene as historical document, and the DNA as archive of history are briefly treated, before approaching the recent commercializations and medializations of group-specific and personalized genetic history and identity. It is here that the challenge of joining history and DNA becomes most evident: on the one hand, the genetic knowledge is presented as particularly authentic and accurate on the basis of its epistemic objects and quantitative and technological approaches. On the other hand, in order for biohistorical identities and socialities to form, the knowledge needs to be rendered in a narrative, esthetically appealing way. This also points to differences vis-a-vis medical genomics in that neither anthropological genetics, nor the biosocialities it facilitates, are oriented towards hope for future health solutions. In offering supposedly purely anthropological knowledge about who we are and where we come from, anthropological genetics is part of backward-looking socialities. It is part of cultures of remembrance.
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Background Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has not been undertaken. Methods ...
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Background Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has not been undertaken. Methods We derive two validation datasets: an 'open' dataset containing variants extracted from publicly available databases, similar to those commonly applied in previous benchmarking exercises, and a 'clinically representative' dataset containing variants identified through research/diagnostic exome and panel sequencing. Using these datasets, we evaluate the performance of three recent meta-predictors, REVEL, GAVIN and ClinPred, and compare their performance against two commonly used in silico tools, SIFT and PolyPhen-2. Results Although the newer meta-predictors outperform the older tools, the performance of all pathogenicity predictors is substantially lower in the clinically representative dataset. Using our clinically relevant dataset, REVEL performed best with an area under the receiver operating characteristic curve of 0.82. Using a concordance-based approach based on a consensus of multiple tools reduces the performance due to both discordance between tools and false concordance where tools make common misclassification. Analysis of tool feature usage may give an insight into the tool performance and misclassification. Conclusion Our results support the adoption of meta-predictors over traditional in silico tools, but do not support a consensus-based approach as in current practice.
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Cancer genetic testing is surrounded by myriad ethical, legal, and psychosocial implications which are being revisited as testing expands into an everyday practice and into more complicated areas like whole exome and direct-to-con...
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Cancer genetic testing is surrounded by myriad ethical, legal, and psychosocial implications which are being revisited as testing expands into an everyday practice and into more complicated areas like whole exome and direct-to-consumer testing. We chose to survey cancer genetic counselors and physicians from a wide range of non-genetics specialties to determine what they would do if faced with the complex decisions associated with cancer genetic testing, how their views compare, and how they align with current guidelines and data. Genetic counselors were significantly more likely than non-genetics physicians to bill their insurance for testing (94.9 vs. 86.8 %; p = 0.001) and purchase life insurance before testing (86.6 vs. 68.6 %; p = 0.000) and were less likely to use an alias (3.2 vs. 13.2 %; p = 0.000) or order testing on their own DNA (15.3 vs. 24.2 %; p = 0.004). They were also less likely to test their minor children (0.9 vs. 33.1 %; p = 0.000) or test their children without their knowledge and consent/assent (1.4 vs.11.5 %; p = 0.000). The results of our study indicate that there is wide variation regarding what clinicians predict they would do in the areas of ethical, legal and psychosocial issues in cancer genetic testing. Cancer genetic counselors' choices are more aligned with professional guidelines, likely due to their experience in the field and awareness of current guidelines. These data are a starting point for a broader discussion of who should offer cancer genetic counseling and testing to patients, particularly as the complexity of the available testing options and associated issues increase with whole exome sequencing.
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Hearing loss is one of the most prevalent disabilities worldwide, and has a significant impact on quality of life. The adult-onset type of the condition is highly heritable but the genetic causes are largely unknown, which is in c...
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Hearing loss is one of the most prevalent disabilities worldwide, and has a significant impact on quality of life. The adult-onset type of the condition is highly heritable but the genetic causes are largely unknown, which is in contrast to childhood-onset hearing loss.Family and cohort studies included exome sequencing and characterisation of the hearing phenotype. Ex vivo protein expression addressed the functional effect of a DNA variant.An in-frame deletion of 12 nucleotides in Collectively, the presented data demonstrate that an inherited form of adult-onset hearing loss is relatively common, with potentially thousands of individuals at risk in the Netherlands and beyond, which makes it an attractive target for developing a (genetic) therapy.
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Sonneratia paracaseolaris, is a critically endangered mangrove species in China. Using inter-simple sequence repeats (ISSR) markers, we compared the genetic variation of introduced populations with that of natural populations to c...
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Sonneratia paracaseolaris, is a critically endangered mangrove species in China. Using inter-simple sequence repeats (ISSR) markers, we compared the genetic variation of introduced populations with that of natural populations to check whether the genetic diversity has been conserved. At the species level, genetic diversity was relatively high (P = 81.37%, He = 0.2241, and SI = 0.3501). Genetic variation in introduced populations (P = 75.78%, He = 0.2291, and SI = 0.3500) was more than that in natural populations (P = 70.81%, He = 0.1903, and SI = 0.2980). Based on Nei's G(ST) value, more genetic differentiation among natural populations was detected (G(ST) = 0.3591). Our data show that the genetic diversity of S. paracaseolaris was conserved in introduced populations to some extent, however, owing to the small natural populations and the threats they encountered, more plants should be planted to enlarge and restore the populations. (C) 2009 Elsevier Ltd. All rights reserved.
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Sonneratia paracaseolaris, is a critically endangered mangrove species in China. Using inter-simple sequence repeats (ISSR) markers, we compared the genetic variation of introduced populations with that of natural populations to c...
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Sonneratia paracaseolaris, is a critically endangered mangrove species in China. Using inter-simple sequence repeats (ISSR) markers, we compared the genetic variation of introduced populations with that of natural populations to check whether the genetic diversity has been conserved. At the species level, genetic diversity was relatively high (P = 81.37%, He = 0.2241, and SI = 0.3501). Genetic variation in introduced populations (P = 75.78%, He = 0.2291, and SI = 0.3500) was more than that in natural populations (P = 70.81%, He = 0.1903, and SI = 0.2980). Based on Nei's G(ST) value, more genetic differentiation among natural populations was detected (G(ST) = 0.3591). Our data show that the genetic diversity of S. paracaseolaris was conserved in introduced populations to some extent, however, owing to the small natural populations and the threats they encountered, more plants should be planted to enlarge and restore the populations. (C) 2009 Elsevier Ltd. All rights reserved.
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At present, the Assaf is the main dairy sheep in Spain. The Spanish Assaf (Assaf.E) was formed by male-mediated absorption of native Spanish sheep. Here we assess the genetic relationships among the Assaf.E and major native Spanis...
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At present, the Assaf is the main dairy sheep in Spain. The Spanish Assaf (Assaf.E) was formed by male-mediated absorption of native Spanish sheep. Here we assess the genetic relationships among the Assaf.E and major native Spanish dairy breeds using microsatellites to contribute to the knowledge of the formation and within-population genetic variability of the breed. Blood samples from 44 unrelated Assaf.E individuals from 23 different Assaf.E flocks spread throughout 6 different Spanish provinces were obtained and geno-typed using 14 microsatellites. Up to 312 additional samples belonging to the Awassi and Milchschaf sheep breeds and to six native Spanish dairy sheep breeds (Castellana, Churra, Latxa, Manchega, and Rubia de El Molar) as well as samples from Merino individuals to be used as the outgroup were also analysed observed (H-o) and expected (H-e) heterozygosity, rarefacted number of alleles per locus and distances based on molecular coancestry information were computed. Probabilities of assignment of the Assaf.E individuals to native Spanish dairy sheep breeds and cryptic genetic structure in the whole dataset were also assessed. It can be concluded that the Assaf.E breed has low genetic Variability and high genetic distance with respect native Spanish dairy sheep breeds. From our results, the formation of the Assaf.E breed basically occurred via the absorption of individuals belonging to the Entrefino type, particularly to the Castellana and Manchega Populations. Furthermore, Churra individuals may have participated in the formation of the Assaf.E breed at an early moment of the introduction of the breed into Spain. (C) 2008 Elsevier B.V. All rights reserved.
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