Genetics in the 21st Century: Implications for patients, consumers and citizens

Roberts, Jonathan; Middleton, Anna

doi:10.12688/f1000research.12850.1

Cited by 10 publications

(6 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Every time a citizen uses a hospital service or participates in a biobank or research project, there is a new opportunity for a fresh set of health data to join the grid. The issue of data donation, access and sharing now appears to be relevant to more of us than ever before—even if we are not personally being asked to donate our data, we might be genetically related to someone who is, and so the decisions they make could be pertinent to us too ( 27 ).…”

Section: Dna and Big Datamentioning

confidence: 99%

Society and personal genome data

Middleton

2018

Human Molecular Genetics

Self Cite

View full text Add to dashboard Cite

Genomic data offer a goldmine of information for understanding the contribution of genetic variation makes to health and disease. The potential of genomic medicine, to predict, diagnose, manage and treat genetic disease, is underpinned by accurate variant interpretation. This in itself hinges on the ability to access large and varied genomic databases. There is now recognition that international collaboration between research and healthcare systems are paramount to delivering the scale of genomic data required. No single research group, institute or country will liberate our understanding, it is only through global cooperation, together with super computing power, will we truly make sense of how genotype and phenotype correlate. Whilst it is logistically possible to create computing systems that talk to each other and aggregate datasets ready to reveal novel correlations, the bottom line is that this will only happen if people (whether they be scientists, clinicians, patients, research participants, policy makers, politicians, law makers) support the principle that we should be donating, accessing and sharing our DNA data in this way. And in order to make the most sense of genomics, given the geographical and ancestral variation between us, such people are likely to be the majority of society. Within this review, a perspective is proffered on the human story that underpins genomic ‘big data’ access and how we are at a tipping point as a society—we need to decide collectively, are we in? and if so, what needs to be in place to protect us? or are we out?

show abstract

Section: Dna and Big Datamentioning

confidence: 99%

Society and personal genome data

Middleton

2018

Human Molecular Genetics

Self Cite

View full text Add to dashboard Cite

show abstract

“…The implementation of a whole-genome (WGS) or whole-exome sequencing (WES) data set as a principal test has provided beneficial information for a more precise diagnosis, aiding and clarifying other conventional tests, while decreasing the number of targeted genetic tests and eventually the time required to perform a full genetic diagnosis (12). The impact of communicating genetic risks is increasingly important for the prevention and treatment of a number of diseases and are rapidly extended to the field of application and practice, as emerging novel genomic pipelines permit more health experts to use information concerning their patients' genetic profiles and gene variants (11,13).…”

Section: Introductionmentioning

confidence: 99%

Demetra Application: An integrated genotype analysis web server for clinical genomics in endometriosis

et al. 2021

View full text Add to dashboard Cite

“…The 21 st century can be called the age of introducing genetic technologies not only into medical practice, but also into many facets of society, as well as personal life and human relations [1]. One of those genetic technologies is DNA-testing.…”

Section: Introductionmentioning

confidence: 99%

The attitude of young people in the city of Yakutsk to DNA-testing

Кононова¹,

Винокурова

Barashkov³

et al. 2021

International Journal of Circumpolar Health

View full text Add to dashboard Cite

This pilot research was one of the first sociological studies with general questions on genetic testing with 300 participants, 75% of which were representatives of one people -the Sakha. A quantitative method was used: a sociological survey with quota sampling (Δ ± 5%), held in February -March 2018 in the City of Yakutsk (n = 350).Analysis of the survey results have shown that the respondents have low levels of awareness about the DNA-testing method: 72.3% "do not know about the method". Only 18.7% of respondents knew that since 2000 the Medical-Genetic Centre of the Sakha Republic (Yakutia) conducts DNA diagnostics for hereditary diseases, with 81.0% replying that they didn't know that. The questionnaire has shown that 90.3% of participants would like to undergo DNA-testing to identify their susceptibility to genetic diseases. Our questionnaire has shown high levels of self-identity among the young Sakha and their desire to learn about their belonging to a specific ethnicity (49.3%) with the assistance of DNA-testing. Furthermore, based on the answers relating to motivations for undergoing DNA-testing, we can say that the respondents have confirmed the peculiarities of their national mindset, specifically, high value of children for a family: "concern for the health of my future children" was a great motivator for taking the test (50.3%).

show abstract

Genetics in the 21st Century: Implications for patients, consumers and citizens

Cited by 10 publications

References 34 publications

Society and personal genome data

Society and personal genome data

Demetra Application: An integrated genotype analysis web server for clinical genomics in endometriosis

The attitude of young people in the city of Yakutsk to DNA-testing

Contact Info

Product

Resources

About