Genetics in mainstream medicine: Finally within grasp to influence healthcare globally

Aradhya, Swaroop; Nussbaum, Robert L.

doi:10.1002/mgg3.415

Cited by 8 publications

(7 citation statements)

References 51 publications

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“…Second, this review found that while many tools had more than one intended clinical setting, half of these studies took place in the oncology setting. Genetic testing is becoming mainstream outside of oncology across various specialties, including neurology, cardiology and nephrology, where there is often a lack of genetic counselling support 46 47. Patients and their caregivers in these specialties and those being tested outside of the traditional clinical genetics settings may have distinct needs from patients in oncology but their needs have been inadequately addressed by existing digital tools.…”

Section: Discussionmentioning

confidence: 99%

Patient-facing digital tools for delivering genetic services: a systematic review

et al. 2022

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This study systematically reviewed the literature on the impact of digital genetics tools on patient care and system efficiencies. MEDLINE and Embase were searched for articles published between January 2010 and March 2021. Studies evaluating the use of patient-facing digital tools in the context of genetic service delivery were included. Two reviewers screened and extracted patient-reported and system-focused outcomes from each study. Data were synthesised using a descriptive approach. Of 3226 unique studies identified, 87 were included. A total of 70 unique digital tools were identified. As a result of using digital tools, 84% of studies reported a positive outcome in at least one of the following patient outcomes: knowledge, psychosocial well-being, behavioural/management changes, family communication, decision-making or level of engagement. Digital tools improved workflow and efficiency for providers and reduced the amount of time they needed to spend with patients. However, we identified a misalignment between study purpose and patient-reported outcomes measured and a lack of tools that encompass the entire genetic counselling and testing trajectory. Given increased demand for genetic services and the shift towards virtual care, this review provides evidence that digital tools can be used to efficiently deliver patient-centred care. Future research should prioritise development, evaluation and implementation of digital tools that can support the entire patient trajectory across a range of clinical settings. PROSPERO registration numberCRD42020202862.

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Section: Discussionmentioning

confidence: 99%

Patient-facing digital tools for delivering genetic services: a systematic review

et al. 2022

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“…Similarly, a clinical geneticist said “It is important medical information, as it would be for other medical investigations, so why wouldn’t you share it?” (P20). The progressively more mainstream role of genetics in healthcare also underpinned this view (Aradhya and Nussbaum, 2018). This was often echoed by consumers who recognised the benefits of having results accessible to all their treating clinicians.…”

Section: Resultsmentioning

confidence: 99%

“…(P20). The progressively more mainstream role of genetics in healthcare also underpinned this view (Aradhya and Nussbaum, 2018). This was often echoed by consumers who recognised the benefits of having results accessible to all their treating clinicians.…”

Section: Themesmentioning

confidence: 99%

Recording our genes: Stakeholder views on genetic test results in networked electronic medical records

Prictor

Rychkova

2022

HIM J

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Background: In Australia, national policy prioritises the integration of clinical genetic data with networked electronic medical records (EMRs) for enhanced coordination of care and clinical decision-making. Objective: To examine the needs, privacy expectations and concerns of patients, family members, patient advocates and clinicians in relation to the use of networked EMRs for clinical genetic information. Method: Purposive sampling was used to recruit 27 participants for a semi-structured qualitative interview, primarily over Zoom. The interviews were audio and video-recorded and externally transcribed. Interview transcripts were then coded and analysed in NVivo, using an inductive thematic approach. Results: Thematic analysis revealed diverse preferences regarding genetic information access and handling across participants, with five core themes being identified: degree of access and control; central role of genetic professionals as information gatekeepers; complexities of familial implications; external risks; and law, governance and policy; all strong themes that emerged across numerous participants. Conclusion: This project yielded unprecedented and significant insights into the views, needs and concerns of key stakeholders in Australia regarding the inclusion of health-related genetic test results in networked EMRs. Implications: These findings provide a critical reference point for much-needed law reform and policy-making around genetic test results in Australia.

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“…Continuous advances in DNA sequencing over the last two decades have enabled cutting edge life sciences research by providing access to increasing amounts of genomic, transcriptomic, and epigenetic data across all fields of biology. Methods for massively parallel sequencing of clonally-amplified short DNA fragments, also known as second-generation sequencing, have reduced the sequencing cost of a whole human genome by over 6 orders of magnitude, from $3B estimated for the Human Genome Project 1 to under $1000 per genome 2 enabling a rapidly growing set of clinical applications ranging from carrier screening and prenatal testing to tumor profiling and early cancer detection [3][4][5][6] . However, sequencing cost reduction has stalled in recent years around the $6-10/Gb price point 2 .…”

Section: Introductionmentioning

confidence: 99%

Cost-efficient whole genome-sequencing using novel mostly natural sequencing-by-synthesis chemistry and open fluidics platform

Almogy¹,

Pratt²,

Oberstrass³

et al. 2022

Preprint

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We introduce a massively parallel novel sequencing platform that combines an open flow cell design on a circular wafer with a large surface area and mostly natural nucleotides that allow optical end-point detection without reversible terminators. This platform enables sequencing billions of reads with longer read length (~300bp) and fast runs times (<20hrs) with high base accuracy (Q30 > 85%), at a low cost of $1/Gb. We establish system performance by whole-genome sequencing of the Genome-In-A-Bottle reference samples HG001-7, demonstrating high accuracy for SNPs (99.6%) and Indels in homopolymers up to length 10 (96.4%) across the vast majority (>98%) of the defined high-confidence regions of these samples. We demonstrate scalability of the whole-genome sequencing workflow by sequencing an additional 224 selected samples from the 1000 Genomes project achieving high concordance with reference data.

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Genetics in mainstream medicine: Finally within grasp to influence healthcare globally

Abstract: A modern genomics ecosystem has emerged. This commentary describes recent trends in clinical genomics that enable its successful integration in mainstream medicine. The rapid expansion of clinical genomics will have a positive impact on the healthcare of individuals worldwide.

Cited by 8 publications

References 51 publications

Patient-facing digital tools for delivering genetic services: a systematic review

Patient-facing digital tools for delivering genetic services: a systematic review

Recording our genes: Stakeholder views on genetic test results in networked electronic medical records

Cost-efficient whole genome-sequencing using novel mostly natural sequencing-by-synthesis chemistry and open fluidics platform

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