Will genome sequencing bring precision medicine for all?

Will genome sequencing bring precision medicine for all?

Publication date: Sep 28, 2019

-There are conditions, particularly rare diseases such as childhood developmental disorders, where genome sequencing is extremely beneficial, and may even be life-saving for some individuals,” says Caroline Wright, senior lecturer in genomics at the University of Exeter.

-There are also conditions – many common diseases, for example – where there is currently no evidence that genome sequencing is beneficial to individuals. “

Earlier this year, the health secretary, Matt Hancock, got into hot water when he announced plans for predictive tests for common cancers and heart disease to be introduced by the NHS without delay.

-Screening healthy people using any type of technology is likely to falsely identify individuals as having – or being at risk of developing – diseases they don’t have and won’t get, causing them psychological and often physical harm, and costing the NHS quite a bit in unnecessary testing and potentially treatment,” says Wright.

-A national health service should be primarily for proven tests and treatments, which includes genome sequencing in certain cases. “

But even critics of Hancock’s plan, such as Anneke Lucassen, professor of clinical genetics at the University of Southampton, do see the need for greater sequencing, in particular from a more diverse range of people.

Much of the available genome data at presently available comes from the government-backed 100,000 Genomes Project, which has sequenced genomes from NHS patients affected by rare diseases or cancer, making the results available to approved researchers.

Unlike some more established names, such as 23andme, which offer general sequencing reports, Sano seeks to act as a matchmaker between people with particular conditions (or a genetic predisposition to them) and researchers in related fields.

But, because our DNA is key to who we are, thatandwith our genome our private code, there is a lot of sensitivity about the protection of genetic information.

However, Jeffrey Skopek, a lecturer in medical law and ethics at the University of Cambridge, questions the belief that all things genetic require greater protection than other information – a belief he terms -genetic exceptionalism”.

Sano, which offers personalised reports based on genome sequencing, prides itself on leaving consumers in charge of their data, so nothing is passed on for research purposes, even anonymously, without signed agreement.

The default setting on Sano’s website is to ask for consent each time the consumer supplies new information, to avoid the danger of anyone accidentally making their data open-access.

Short believes consumers have been misled by many genetic testing companies, which, he says, -often sacrifice scientific integrity to sell kits”.

Also interpretation of genetic information is complex and requires a sophisticated understanding of a person’s genome and environment.

Now the firm focuses on a selection of conditions for which there are known genetic markers, such as type 2 diabetes, breast cancer and coeliac disease, and emphasises that these markers only influence your chances of developing a condition.

Sano aims to provide a next-generation sequencing service, with genetic counsellors available, a doctor involved and good links to the NHS.

Concepts Keywords
23andMe Case example algorithms
23andme Genotyping
Baldness Genetic testing
Bespoke Medicine Genetic code
Biotech 23andMe
Breast Personalized medicine
Cambridge Whole genome sequencing
Cancer Branches of biology
Circadian Rhythms Genetics
Coeliac Disease Genomics
Coffee Molecular biology
Dante Biotechnology
Diabetes Emerging technologies
DNA Applied genetics
Ethics Short psoriatic arthritis
Exeter Rare diseases cancer
Facebook Developmental speech delays
FDA Conditions common diseases
Gene Proactive reactive healthcare
Genetic Case example algorithms
Genetic Code Healthcare
Genetic Medicine Law ethics
Genetic Predisposition
Genetic Testing
Genetic Variation
Genome
Genotyping
Grassroots
Healthcare
Informed Consent
Matchmaker
Matchmaking
Matt Hancock
Muscle Tone
Mutation
Neurodevelopment
NHS
Nicotine
North Carolina
Open Access
Personalised Medicine
PhD
Physician
Precision Medicine
Prostate Cancer
Psoriatic Arthritis
Rome
Sequencing
Southampton
Stomach Ulcers
Syndrome
Tick

Semantics

Type Source Name
gene UNIPROT HMBS
gene UNIPROT APOLD1
gene UNIPROT FICD
gene UNIPROT VSIR
disease MESH rare diseases
gene UNIPROT TMEM79
gene UNIPROT ADHFE1
drug DRUGBANK Water
disease MESH cancers
disease MESH heart disease
disease DOID heart disease
gene UNIPROT NHS
gene UNIPROT PTPN5
disease MESH prostate cancer
disease DOID prostate cancer
pathway BSID Prostate cancer
gene UNIPROT SIRPA
disease DOID cancer
gene UNIPROT LITAF
gene UNIPROT SET
gene UNIPROT PDC
disease MESH diagnosis
drug DRUGBANK Tropicamide
gene UNIPROT RXFP2
drug DRUGBANK Nonoxynol-9
gene UNIPROT DBF4
gene UNIPROT ARSK
gene UNIPROT ITPRIP
gene UNIPROT SELL
disease MESH genetic markers
disease MESH type 2 diabetes
disease MESH breast cancer
disease DOID breast cancer
pathway BSID Breast cancer
disease DOID coeliac disease
gene UNIPROT LAT2
gene UNIPROT APP
gene UNIPROT MAP6
gene UNIPROT CD69
gene UNIPROT DNMT1
gene UNIPROT KIT
disease MESH psoriatic arthritis
disease DOID psoriatic arthritis
disease MESH stomach ulcers
gene UNIPROT EAF2
disease MESH nicotine dependence
disease DOID nicotine dependence
disease MESH male pattern baldness
disease MESH syndrome
disease DOID syndrome
gene UNIPROT SHANK3
disease MESH speech delays
drug DRUGBANK Isoxaflutole

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