View Full Version : Whole-genome sequencing in health care

Jean M
05-20-2013, 01:14 PM
Recommendations of the European Society of Human Genetics have just been published in the European Journal of Human Genetics (2013) 21,
S1–S5. They are available free. Pdf download: http://www.nature.com/ejhg/journal/v21/n1s/pdf/ejhg201346a.pdf Stripped of discussion and background, here they are:


(1) In order to contribute to developing best practices in implementing WGS/WES into health care, stakeholders from relevant fields in research and the clinic should set up structures for sharing experiences and establish testing guidelines at local, national and international levels.

(2) When in the clinical setting either targeted sequencing or analysis of genome data is possible, it is preferable to use a targeted approach first in order to avoid unsolicited findings or findings that cannot be interpreted. Filtering should limit the analysis to specific (sets of) genes. Known genetic variants with limited or no clinical utility should be filtered out (if possible neither analyzed nor reported).

(3) The use of genome-wide arrays or WGA requires a justification in terms of necessity (the need to solve a clinical problem) and proportionality (the balance of benefits and drawbacks for the patient).

(4) Whenever the use of these techniques is considered, a protocol has to be in place to give guidance on the reporting of unsolicited findings. If the detection of an unsolicited genetic variant is indicative of serious health problems (either in the person tested or his or her close relatives) that allow for treatment or prevention, in principle, a health-care professional should report such genetic variants.

(5) Guidelines for informed consent regarding diagnostic testing need to be developed. Patients’ claims to a right not to know do not automatically over-ride professional responsibilities when the patient’s own health or that of his or her close relatives are at stake. Patient groups could provide important input into how this should be handled.

(6) As testing for health care and for biobank research can be intertwined activities, clinicians should be aware of the importance of safeguarding the patient’s position and explain the potential crossover with research. Relevant normative frameworks including consent procedures for diagnosis, research, disclosure and storage need to be reconsidered, and if necessary adapted to the challenges of the new situation.

(7) In case of testing minors, guidelines need to be established as to what unsolicited information should be disclosed in order to balance the autonomy and interests of the child and the parental rights and needs (not) to receive information that may be in the interest of their (future) family.

(8) In the case where new scientific evidence of clinical relevance to patients arises from the initial investigation after a diagnostic question was dealt with, the possibility of recontacting participants should be considered. A guideline should be established detailing how and when this should be done.

(9) To facilitate the interpretation of genome data, international collaboration is needed to build sustainable databases on genotypic and phenotypic information of variants and patients.

(10) A sustained effort at genetic education of health-care professionals is required at various levels: in primary care to inform and refer people appropriately, and in specialized care to counsel or refer patients, and to discuss and interpret genetic test results adequately.

(11) Genetic experts should engage in discussing new developments in genetics, and explain the pros and cons of genetic testing and screening in clinical and commercial settings to inform the public and raise public awareness. Enhancing genetic literacy in patients and the lay public will help to involve wider society in this debate.

Jean M
05-29-2013, 03:27 PM
The BBC has a video covering in simple terms the way that whole-genome testing could impact health care: http://www.bbc.co.uk/news/health-22686245

Doctors are getting much better at knowing the types of health problems we may encounter in later life through improved genetic testing. But what if you think you may be susceptible to one condition, only to find that others could be on their way? Researchers at the University of Southampton say giving people that information is proving a challenge for health professionals.

05-31-2013, 01:26 AM
The BBC has a video covering in simple terms the way that whole-genome testing could impact health care: http://www.bbc.co.uk/news/health-22686245

The issue though is that we really don't have a good understanding of genetic causes of most illnesses. Perhaps 40 conditions have some good research behind them. So, even if you get whole genome sequencing the benefits won't be had until the research catches up with the sequencing technology which may be 25 years, or even longer.

07-07-2013, 01:37 AM
^The stuff that Organovo is into these days might be able to offset the gaps in what we know about illness. We may not immediately be able to find cures but we might be able to at least replace the parts of us that don't work. The first tests should be around 2015.


Jean M
07-07-2013, 06:59 PM
Genomics England has been created to help deliver the 100k Genome Project first announced by the Prime Minister David Cameron in December 2012. http://www.genomicsengland.co.uk/

This project will sequence the personal DNA code – known as a genome – of up to 100,000 patients over the next five years. Genomics England was announced by Jeremy Hunt, Secretary of State for Health, as part of the NHS 65th birthday celebrations on 5 July 2013.

“The UK will become the first ever country to introduce this technology in its mainstream health system – leading the global race for better tests, better drugs and above all better, more personalised care to save lives.

“Genomics England will provide the investment and leadership needed to dramatically increase the use of this technology and drive down costs.”

Jean M
07-31-2014, 11:09 PM
Latest news on Genomics England from the BBC:


The first genetic codes of people with cancer or rare diseases, out of a target of 100,000, have been sequenced.

Pilots have been set up at centres across England - including sites in Newcastle, Cambridge and London - and the first genome was sequenced on 30 May.

The project has passed the 100 mark, with the aim of reaching 1,000 by the end of the year and 10,000 by the end of 2015.

08-01-2014, 01:47 AM
Hi Jean,

Can you help me understand what the average ACTUAL street price in the UK is for a Whole Genome DNA test WITH the subsequent analysis cost?

The BBC article you cited says
"Now it can take one machine a couple of days and costs around 1,000 (US$1688)."
To me that US$1688 looks to me that it is just for the DNA test cost. Is that DNA testing cost even close to the
ACTUAL street price in the UK? Plus, what is the ACTUAL street price in the UK for the Analysis
by a Board Certified Healthcare Geneticist?

FGC - Full Genomes has a Whole Genome test in the US$1700 area from their BGI Lab supplier.
FTDNA -GneByGene is at US$7395.

The FGC $589 Y Prime & mtDNA Prime is giving FTDNA some solid competition.

And as some have noted, a single NGS test won't cut it anymore if you are aiming for comprehensive Y discovery.

Jean M
08-28-2014, 05:34 PM
Hi Jean,

Can you help me understand what the average ACTUAL street price in the UK is for a Whole Genome DNA test WITH the subsequent analysis cost?

I'm afraid not Emmerson. I don't know a thing about it. The news items in this thread are not about direct-to-consumer testing. I think you need the Commercial Testing bit of the forum.