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Colorectal Cancer
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Extended and specialist teams ideally include: Liver/hepatic surgeons who are members of a liver resection MDT and can advise the CRC MDT. They should be embedded within specialist liver treatment centers due to the complexity of care of hepatic interventions.Thoracic surgeon with expertise in lung resection.Interventional radiologist with expertise in liver and vascular staging technologies and interventions, direct tumor targeting (such as radiofrequency ablation [RFA]), and insertion of intestinal stents (although this can also be done by other members of the specialist team).General practitioners/primary care or community linked teams.Dietitian.Liaison psychiatrist/clinical psychologist.Social worker.Clinical geneticist/genetics counsellor.Clinical trials coordinator or research nurse.
Genomic risk perception and implications for patient outcomes from genetic counselling
Published in Ulrik Kihlbom, Mats G. Hansson, Silke Schicktanz, Ethical, Social and Psychological Impacts of Genomic Risk Communication, 2020
However, we have known for a long time that patients of clinical genetics services often struggle to ‘rationalize’ the risk figures provided in genetic counselling. For example, some patients have been reported to translate genetic risks into ‘binary’ form – the event (e.g. a pregnancy affected by the family condition) either will or will not happen. In this way, patients may simplify probabilistic information to shift their focus to the implications of being at risk and the potential impact of what might or might not occur (Lippman-Hand and Fraser, 1979; Parsons and Atkinson, 1982).
Midwifery and obstetrics
Published in Roy Palmer, Diana Wetherill, Medicine for Lawyers, 2020
Beverley Gordon, Gareth Thomas
Clinical genetics is a fast-moving specialty and it is now possible to screen individuals with relevant family histories for some disorders, such as cystic fibrosis and the muscular dystrophies, well in advance of conception.
A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2023
Hugo M. De Oliveira, Arunachalam Soma, Mark R. Baker, Martin R. Turner, Kevin Talbot, Timothy L. Williams
Almost a third (27%; 8/30) of respondents offered genetic testing to patients with apparently sporadic disease routinely, 47% (14/30) on a case-by-case basis, 13% (4/30) refer to local clinical genetics services and a further 13% (4/30) another service or colleague for consideration of genetic testing (Figure 1(D)). Free text comments (Supplementary File 2) provide further insight into factors that influence an individual’s approach to genetic testing in apparently sporadic disease. These included the fact that some only commonly performed genetic testing in familial disease, and thus were less comfortable doing so in apparently sporadic cases, and the increasing complexity of ALS genetics, including incomplete penetrance and variants of unknown significance (VUS), which add to the challenge of communicating results to patients, given the limited level of understanding of genetic concepts, in general, in the patient population (10).
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency
Published in Ophthalmic Genetics, 2020
Monika K. Grudzinska Pechhacker, Matteo Di Scipio, Anjali Vig, Anupreet Tumber, Nicole Roslin, Erika Tavares, Ajoy Vincent, Elise Hèon
The 11-year-old female of Cambodian origin presented with previously established diagnosis of a neurometabolic disease due to homozygous pathologic variants in AHCY gene NM_001322086.1:c.148G>A, p.(Ala50Thr). Her systemic phenotype included: developmental delay, cerebellar atrophy and ataxia, obesity and exercise intolerance. The patient also had hypercalcemia and elevated liver enzymes. Patient was assessed by Clinical Genetics and Neurometabolics at the Hospital for Sick Children. Segregation analysis revealed the same homozygous variants in her brother (III-2), who was also affected and one variant in unaffected mother (II-1). Father (II-2) was not available for testing. Functional enzyme assay was performed on skin fibroblasts confirming S-adenosylhomocysteine hydrolase deficiency (SAHH). Thereby, based on the genetic test results, supported by functional enzyme test and typical phenotype, the diagnosis of SAHH was established in III-1 and III-2.
Rates of diagnostic genetic testing in a tertiary ocular genetics clinic
Published in Ophthalmic Genetics, 2020
R. Scott Lowery, John R. Dehnel, G. Bradley Schaefer, Sami H. Uwaydat
Clinical genetics is a field that has evolved quite significantly since the completion of the Human Genome Project. One area that has seen substantial change is diagnostic testing. Today, tests like the APEX Array and Next Generation Sequencing (high throughput testing) exist, leading to an increase in sensitivity, specificity, and efficiency of testing (1). There have been similar improvements for gene therapy treatments. Gene therapy research in ophthalmology has led to an effective treatment for the RPE-related Leber congenital amaurosis (2,3). Further, recent animal model testing and phase I and II clinical trials are showing exciting and promising results with gene replacement for retinal structural proteins and rescue of retinal degeneration (4,5). Gene therapy outside of ophthalmology is now available as a viral vector, onasemnogene abeparvovec (Zolgensma®), for the treatment of spinal muscular atrophy (SMA) type 1. This is showing promise for curing SMA type 1 with just one treatment (6). In sum, there is increasing potential of genetic treatments to cure or improve outcomes of genetic-related diseases and disorders.