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A new IFCC Task Force on Geriatric Laboratory Medicine (TF-GLM)

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Among the IFCC Tack Force objectives a literature review of laboratory medicine in geriatric populations, the preparation of a review article on the impact of ageing on laboratory medicine parameters and, in cooperation with a partner clinical organisation the completion of three specific literature based projects of importance to laboratory medicine in geriatric subjects.

Membership

Chair

  • Dr. Cynthia Marie Balion. Department of Laboratory Medicine.

Members

  • Prof. Giuseppe Lippi. Full Professor of Clinical Biochemistry. Section of Clinical Biochemistry. University of Verona
  • Prof. Grażyna Odrowąż-Sypniewska. Chair and Department of Laboratory Medicine. Collegium Medicum Bydgoszcz
  • Ferhan G. Sagin, M.D., Ph.D. Professor of Biochemistry. Ege University, Faculty of Medicine. Department of Medical Biochemistry
  • Dr. Leslie M. Shaw. Hospital of the University of Pennsylvania

Aim

The TF-GLM aims to improve knowledge and understanding of key changes in physiology and pathophysiology that occur in elderly subjects and the impact that these may have on laboratory medicine parameters.

Objectives

  1. To conduct a literature review of laboratory medicine in geriatric populations
  2. To write and publish a review article on the impact of ageing on laboratory medicine parameters
  3. To undertake three specific literature based projects of importance to laboratory medicine in geriatric subjects. These projects will be selected in association with a partner clinical organisation and may include:
    • Reference intervals for key laboratory medicine parameters
    • The impact of drugs commonly prescribed to geriatric subjects on metabolism and the consequences for laboratory medicine parameters
    • New biomarkers of ageing and/or specific disorders found in geriatric subjects
    • Clinical guidelines for the investigation of one or more disorders occurring in geriatric populations

Cooperation

The TF-GLM will seek to collaborate with an international clinical organisation. The International Association of Gerontology and Geriatrics (IAGG) has been approached to be a partner for TF-GLM

Delivery

  1. TF-GLM will publish a general review on the impact of ageing on laboratory medicine parameters
  2. TF-GLM will publish a scientific article at the conclusion of each specific project
  3. TF-GLM will seek to provide speakers and symposia an international congresses of laboratory medicine and geriatric medicine
  4. TF-GLM will produce simple educational support materials (e.g. on-line learning module) to assist trainees in laboratory medicine to understand the impact of ageing

Accountability

The TF-GLM will report to the Executive Board through the President.

Source: www.ifcc.org

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WHO statement on the 2nd meeting of IHR Emergency Committee on Zika virus and observed increase in neurological disorders and neonatal malformations

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The WHO Secretariat briefed the Committee on action in implementing the Temporary Recommendations issued by the Director-General on 1 February 2016, and on clusters of microcephaly and Guillain-Barré Syndrome (GBS) that have had a temporal association with Zika virus transmission. The Committee was provided with additional data from observational, comparative and experimental studies on the possible causal association between Zika virus infection, microcephaly and GBS.

The following States Parties provided information on microcephaly, GBS and other neurological disorders occurring in the presence of Zika virus transmission: Brazil, Cabo Verde, Colombia, France, and the United States of America.

The Committee noted the new information from States Parties and academic institutions in terms of case reports, case series, 1 case control study (GBS) and 1 cohort study (microcephaly) on congenital abnormalities and neurologic disease in the presence of Zika virus infection. It reinforced the need for further work to generate additional evidence on this association and to understand any inconsistencies in data from countries. The Committee advised that the clusters of microcephaly cases and other neurological disorders continue to constitute a Public Health Emergency of International Concern (PHEIC), and that there is increasing evidence that there is a causal relationship with Zika virus.

The Committee provided the following advice to the Director-General for her consideration to address the PHEIC, in accordance with IHR (2005).

Microcephaly, other neurological disorders and Zika virus

  • Research into the relationship between new clusters of microcephaly, other neurological disorders, including GBS, and Zika virus, should be intensified.
  • Particular attention should be given to generating additional data on the genetic sequences and clinical effect of different Zika virus strains, studying the neuropathology of microcephaly, conducting additional case-control and cohort studies in other and more recently infected settings, and developing animal models for experimental studies.
  • Research on the natural history of Zika virus infection should be expedited, including on the rates of asymptomatic infection, the implications of asymptomatic infection, particularly with respect to pregnancy, and the persistence of virus excretion.
  • Retrospective and prospective studies of the rates of microcephaly and other neurological disorders should be conducted in other areas known to have had Zika virus transmission but where such clusters were not observed.
  • Research should continue to explore the possibility of other causative factors or co-factors for the observed clusters of microcephaly and other neurological disorders.
  • To facilitate this research and ensure the most rapid results:
    • surveillance for microcephaly and GBS should be standardized and enhanced, particularly in areas of known Zika virus transmission and areas at risk,
    • work should begin on the development of a potential case definition for ‘congenital Zika infection’,
    • clinical, virologic and epidemiologic data related to the increased rates of microcephaly and/or GBS, and Zika virus transmission, should be rapidly shared with the World Health Organization to facilitate international understanding of the these events, to guide international support for control efforts, and to prioritize further research and product development.

Surveillance

  • Surveillance for and notification of Zika virus infection should be enhanced with the dissemination of standard case definitions and diagnostics to areas of transmission and at-risk areas; newly infected areas should undertake the vector control measures outlined below.

Vector control

  • Vector surveillance, including the determination of mosquito vector species and their sensitivity to insecticides, should be enhanced to strengthen risk assessments and vector control measures.
  • Vector control measures and appropriate personal protective measures should be aggressively promoted and implemented to reduce the risk of exposure to Zika virus.
  • Countries should strengthen vector control measures in the long term and the Director-General of WHO should explore the use of IHR mechanisms, and consider bringing this to a forthcoming World Health Assembly, as means to better engage countries on this issue.

Risk communication

  • Risk communication should be enhanced in countries with Zika virus transmission to address population concerns, enhance community engagement, improve reporting, and ensure application of vector control and personal protective measures.
  • These measures should be based on an appropriate assessment of public perception, knowledge and information; the impact of risk communication measures should be rigorously evaluated to guide their adaptation and improve their impact.
  • Attention should be given to ensuring women of childbearing age and particularly pregnant women have the necessary information and materials to reduce risk of exposure.
  • Information on the risk of sexual transmission, and measures to reduce that risk, should be available to people living in and returning from areas of reported Zika virus transmission.

Clinical care

  • Pregnant women who have been exposed to Zika virus should be counselled and followed for birth outcomes based on the best available information and national practice and policies,
  • In areas of known Zika virus transmission, health services should be prepared for potential increases in neurological syndromes and/or congenital malformations.

Travel measures

  • There should be no general restrictions on travel or trade with countries, areas and/or territories with Zika virus transmission.
  • Pregnant women should be advised not travel to areas of ongoing Zika virus outbreaks; pregnant women whose sexual partners live in or travel to areas with Zika virus outbreaks should ensure safe sexual practices or abstain from sex for the duration of their pregnancy.
  • Travellers to areas with Zika virus outbreaks should be provided with up to date advice on potential risks and appropriate measures to reduce the possibility of exposure to mosquito bites and, upon return, should take appropriate measures, including safe sex, to reduce the risk of onward transmission.
  • The World Health Organization should regularly update its guidance on travel with evolving information on the nature and duration of risks associated with Zika virus infection.
  • Standard WHO recommendations regarding vector control at airports should be implemented in keeping with the IHR (2005). Countries should consider the disinsection of aircraft.

Research & product development

  • The development of new diagnostics for Zika virus infection should be prioritized to facilitate surveillance and control measures, and especially the management of pregnancy.
  • Research, development and evaluation of novel vector control measures should be pursued with particular urgency.
  • Research and development efforts should also be intensified for Zika virus vaccines and therapeutics in the medium term.

Based on this advice the Director-General declared the continuation of the Public Health Emergency of International Concern (PHEIC). The Director-General endorsed the Committee’s advice and issued them as Temporary Recommendations under IHR (2005). The Director-General thanked the Committee Members and Advisors for their advice.

Media contacts:

  • Fadéla Chaib
  • Telephone: +41 22 791 3228
  • Mobile: +41 79 475 5556
  • E-mail: chaibf@who.int

Source: WHO

IFCC’s eNews January – February 2016

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IFCC’s eNews January – February 2016

  • Election of the next IFCC Executive Board (2018-2020): procedure has commenced
  • Shaping the future of laboratory medicine: an update
  • ˆˆWhat is medical laboratory accreditation and why is it important?
  • ˆˆA step back in time in Montevideo, Uruguay (IFCC VLP)
  • IFCC welcomes a new affiliate member: Nepalese Association for Clinical Chemistry
  • Task Force Young Scientists (TFYS)
  • –ACBICON 2015 – India
  • ––WASPaLM: IFCC-TFYS Joint Session, Cancun
  • IFCC General Conference – Madrid 2016
  • ˆˆNEWS FROM REGIONAL FEDERATIONS AND MEMBER SOCIETIES
  • ––XVIII Ordinary National Congress of the Bolivian Society of Clinical Biochemistry
  • ––Turkish Biochemical Society: 27th National Biochemistry Congress
  • ––EFLM TFG-PSEP: “Performance specifications for the extra-analytical phases”
  • ––EFLM TFG-DM: “Allocation of laboratory tests to different model for performance specifications”
  • ––EFLM Symposia at the EuroMedLab Congress 2017
  • ––Thanks to the outgoing EFLM Committee Chairs
  • ––Welcome to the new EFLM Committee Chairs
  • ––News from Pakistan: CME Seminar on ‘World Osteoporosis Day’
  • ––News from Serbia: 18th Annual Scientific Conference
  • ––9th International Conference on Quality Control – Mexico City
  • ˆˆ IFCC PROFESSIONAL SCIENTIFIC EXCHANGE PROGRAMME (PSEP)
  • ––My experience in Philadelphia
  • ––My experience at Fatebenefratelli Hospital, Rome, Italy
  • IFCC’S CALENDAR OF CONGRESSES, CONFERENCES & EVENTS

Download here the eNews

Latest issue of the eJIFCC 2016 Vol 27 no. 1

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eJIFCC 2016 Vol 27 no° 1

  • Foreword of the editor – Gábor L. Kovács
  • Harmonization of clinical laboratory test results – Jillian R. Tate, Gary L. Myers
  • Harmonization of clinical laboratory information – current and future strategies – Mario Plebani
  • Harmonization initiatives in Europe – Ferruccio Ceriotti
  • The International Consortium for Harmonization of Clinical Laboratory Results (ICHCLR) – a pathway for harmonization – Gary L. Myers, W. Greg Miller
  • Harmonization of clinical laboratory test results: the role of the IVD industry – Dave Armbruster, James Donnelly
  • Deriving harmonised reference intervals – global activities – Jillian R. Tate, Gus Koerbin, Khosrow Adeli
  • Critical risk results – an update on international initiatives – Lam Q., Ajzner E., Campbell C.A., Young A.
  • Analytical challenges in the genetic diagnosis of Lynch syndrome – difficult detection of germ-line mutations in sequences surrounding homopolymers – Castillejo M.I., Castillejo A., Barbera V.M., Soto J.L.
  • The first green diagnostic centre and laboratory building in Indonesia – Joseph B. Lopez, Endang Hoyaranda, Ivan Priatman

Click here to download the pdf of the full issue

For lupus patients, anti-inflammatory cells are maturing into wrong cell type

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A University College London study published on March 8 in Immunity now suggests that for people with lupus, the B cells that regulate inflammation are getting signaled to become pro-inflammatory cells instead. The research, done using human blood samples and genetic profiles, also provides evidence that how a lupus patient responds to treatment is related to their levels of these cellular signals.

This miscommunication in lupus patients seems to come from an imbalance of three types of immune cells: B cells that produce antibodies to protect the body against foreign microbes (and a main driver of autoimmune disorders); plasmacytoid dendritic cells that produce a molecular signal called interferon-alpha (IFN-α) that stimulates B cells; and regulatory B cells that suppress excessive immune responses, which come in short supply for lupus patients.

“Our study shows for the first time that the overproduction of IFN-α by hyperactivated plasmacytoid dendritic cells in lupus patients is the consequence of the lack of suppressive regulatory B cells,” says senior author Claudia Mauri, an immunologist at University College London. “The uncontrolled production of IFN-α causes an increase of antibody-producing B cells and suppresses the division and appearance of regulatory B cells.”

The researchers also discovered a potential reason why rituximab, a drug that has been used off-label to treat lupus by depleting the vast majority of circulating B cells, benefits some patients with lupus but not others. The data come from analyzing immune cells and genetic activity from nearly 100 healthy volunteers and 200 people with lupus.

“After treatment, newly formed B cells come back into circulation,” says lead author Madhvi Menon, a postdoctoral researcher in Mauri’s lab. “Our study suggests that response to rituximab is determined by the presence or absence of an elevated IFN-α-related gene activity,” she says. “Thus, only in patients that have a normal IFN-α signature do the newly repopulated B cells successfully mature into regulatory B cells.”

The results suggest that lupus patients should be tested for this IFN-α-related gene signature prior to treatment with rituximab. “This would be an important step towards personalised medicine for the treatment of lupus,” Mauri says.

Source: www.biocompare.com

ACP issues advice for evaluating blood in the urine as a sign of cancer

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In a paper published in Annals of Internal Medicine, the American College of Physicians (ACP) issued High Value Care advice for the evaluation of blood in the urine, or hematuria, as a sign of urinary tract cancer and to help physicians make decisions about referral of patients for urological assessment.

“Physicians should be aware of risk factors for cancer when considering the finding of hematuria,” said ACP President Dr. Wayne J. Riley. “Doctors and patients need to know that visible blood in the urine, or gross hematuria, is strongly associated with cancer and other potentially serious underlying conditions.”

While there is little controversy regarding the indication for urologic evaluation for patients with gross hematuria, ACP explains in the paper, the evaluation of patients with the much more common finding of microscopic hematuria is complicated by a lack of clarity regarding indications for referral and optimal components of the evaluation.

ACP advises that physicians should include gross hematuria in their routine patient history review and specifically ask all patients with microscopic hematuria about any history of gross hematuria. Physicians should refer for further urologic evaluation all adults with gross hematuria, even if self-limited (ceases with or without specific treatment). Emerging evidence suggests that a history of self-limited gross hematuria may be a common, important, and significantly underreported symptom.

Physicians should confirm heme-positive results of dipstick testing with microscopic urinalysis that demonstrates 3 or more erythrocytes/HPF (high-powered field) before initiating further evaluation in all asymptomatic adults.

Physicians should consider urology referral for cystoscopy and imaging in adults with microscopically confirmed hematuria in the absence of demonstrable benign cause. Physicians should pursue a full evaluation of hematuria even if the patient is on antiplatelet or anticoagulant therapy.

Physicians should not use screening urinalysis for cancer detection in asymptomatic adults or obtain urinary cytology or other urine-based molecular markers for bladder cancer detection in the initial evaluation of hematuria.

About ACP’s High Value Care Task Force

ACP’s High Value Care initiative is designed to help doctors and patients understand the benefits, harms, and costs of tests and treatment options for common clinical issues so they can pursue care together that improves health, avoids harms, and eliminates wasteful practices. ACP defines High Value Care as the delivery of services providing benefits that make their harms and costs worthwhile. ACP’s High Value Care Task Force papers focus on value by evaluating the benefits, harms, and costs of a test or intervention. Value is not merely cost. Some expensive tests and treatments have high value because they provide high benefit and low harm. Conversely, some inexpensive tests or treatments have low value because they do not provide enough benefit to justify even their low costs and might even be harmful.

About the American College of Physicians

The American College of Physicians is the largest medical specialty organization and the second-largest physician group in the United States. ACP members include 143,000 internal medicine physicians (internists), related subspecialists, and medical students. Internal medicine physicians are specialists who apply scientific knowledge and clinical expertise to the diagnosis, treatment, and compassionate care of adults across the spectrum from health to complex illness.

Source: ACP

Potential diagnostic for dengue fever outcomes based on metabolomic profiles

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There are currently no standard biomarkers or algorithms for the prognosis of the progression to hemorrhagic fever or potentially fatal shock syndrome. In the latest issue of PLOS Neglected Tropical Diseasesscientists from Colorado State University explore the use of small molecules in patient serum for diagnosis of dengue fever and potentially predicting progression to the severe disease.

In a collaboration with colleagues from the University of California, Berkeley, the Nicaraguan Ministry of Health, and the University of Yucatan, Mexico, the researchers analyzed serum samples from dengue patients in Mexico and Nicaragua. They used liquid chromatography and mass spectrometry to identify molecular features in patients diagnosed with dengue fever, dengue hemorrhagic fever/dengue shock syndrome or non-dengue disease groups. As per earlier studies by others, they confirmed that infection with dengue virus perturbs the human metabolome; the set of small molecule metabolites within the serum sample. They also found many metabolites had statistically significant differences in pair-wise comparisons between the three diagnostic groups.

In the Nicaraguan samples, distinct metabolic clusters were associated with the three different diagnostic groups. However this effect was not seen in the Mexican samples. The researchers suggest this may be due to much greater diversity in both the disease (two different serotypes and no available information on immune status) and the patients in Mexico, who had a larger age distribution compared with the pediatric-only Nicaraguan samples. It is clear that metabolic profiles for the disease will differ between region, patient age, genetic background, and disease status, nonetheless, similar trends were found for many metabolites that differentiated disease outcomes in the two groups.

In order to explore whether differences in the metabolome might be used to predict dengue outcomes, the researchers studied 31 samples from Nicaragua. 16 of these patients progressed from dengue fever to hemorrhagic fever/dengue shock syndrome while the remaining 15 did not. 65 metabolites were found that differentiated the two disease outcomes. Six of these prognostic metabolites have thus far been structurally confirmed.

By identifying and profiling molecules that differ between different forms of dengue, the researchers lay the foundations for finding biomarkers present at early-stage dengue that are able to predict disease development. An early predictor of dengue hemorrhagic fever/dengue shock syndrome would allow appropriate triaging of patients for management and treatment. An understanding of the metabolic profile of infected patients also provides insights into the intracellular pathways instrumental in dengue infection, replication and pathogenesis.

“Metabolomics provides new opportunities and a powerful approach to investigate potential viral, host, pathogenic and immunological determinants of dengue infection and pathogenesis,” explains Dr. Barry Beaty, from the Colorado State University. The research team is currently conducting a prospective clinical study in Nicaragua to further identify small molecule biomarker “biosignatures” for efficient diagnosis and prognosis of dengue.

Please contact plosntds@plos.org if you would like more information about our content and specific topics of interest.

All works published in PLOS Neglected Tropical Diseases are open access, which means that everything is immediately and freely available. Use this URL in your coverage to provide readers access to the paper upon publication:

http://dx.plos.org/10.1371/journal.pntd.0004449 (Link goes live upon article publication)

Funding: This work was supported by National Institute of Health grants U54AI065357 and R21/R33AI100186.

The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

About PLOS Neglected Tropical Diseases

PLOS Neglected Tropical Diseases is a peer-reviewed, open-access journal devoted to the pathology, epidemiology, prevention, treatment, and control of the neglected tropical diseases, as well as public policy relevant to this group of diseases. All works published in PLOS Neglected Tropical Diseases are open access, which means that everything is immediately and freely available subject only to the condition that the original authorship and source are properly attributed. The Public Library of Science uses the Creative Commons Attribution License, and copyright is retained by the authors.

About the Public Library of Science

The Public Library of Science (PLOS) is a non-profit organization of scientists and physicians committed to making the world’s scientific and medical literature a freely available public resource. For more information, visit http://www.plos.org.

Media Permissions

PLOS Journals publish under a Creative Commons Attribution License, which permits free reuse of all materials published with the article, so long as the work is cited (e.g., Kaltenbach LS et al. (2007) Huntington Interacting Proteins Are Genetic Modifiers of Neurodegeneration. PLOS Genet 3(5): e82. doi:10.1371/journal.pgen.0030082). No prior permission is required from the authors or publisher. For queries about the license, please contact the relative journal contact indicated here: http://www.plos.org/journals/embargopolicy.php

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

Source: Eurekalert

New research adds additional layer of complexity to human protein landscape

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Petra Van Damme - ©VIB

For that reason, the diversity of human proteins seems to be fundamentally underestimated. Professors Petra Van Damme and Kris Gevaert report these results in the journal Molecular Systems Biology this month.

In 2001, the entire human genome was decoded in an ambitious, collaborative project called the Human Genome Project. Computer programs were used to predict the boundaries of genes in the raw DNA sequence and the detection of gene transcripts served as validation of this annotation process. Of course, the real proof of a gene being protein coding is to catch the actual protein.

To do exactly that, Van Damme and her team make use of modern mass spectrometry and ribosome profiling technologies. Previously, they and others exposed alternative translation start codons in up to 20% of the human protein-coding genes, which had simply been overlooked by prediction algorithms scanning the human DNA code. PhD student Daria Gawron (VIB/UGent) comments, “A cell might thus -depending on the situation- decide to express a smaller or larger version of a certain protein.”

“In the past, researchers who observed shorter versions of certain proteins, quickly shelved them as non-functional byproducts of protein degradation”, Van Damme (VIB/UGent) says. “Our work shows that these protein variants are generally conserved. Not only are these proteoforms coded for in the genome, they are also tightly regulated and often display altered stability.”

These findings might have important implications for a new and quickly developing science field: gene editing. “To knock out a gene, a point mutation in its DNA sequence can be very accurately introduced with modern gene editing techniques. However, scientists should be aware that by doing so, they might actually induce the formation of a truncated, more stable version of the protein, provoking the exact opposite effect than desired”, Gawron explains.

 

VIB

Basic research in life sciences is VIB’s raison d’être. On the one hand, we are pushing the boundaries of what we know about molecular mechanisms and how they rule living organisms such as human beings, animals, plants and microorganisms. On the other, we are creating tangible results for the benefit of society. Based on a close partnership with five Flemish universities – Ghent University, KU Leuven, University of Antwerp, Vrije Universiteit Brussel and Hasselt University – and supported by a solid funding program, VIB unites the expertise of 75 research groups in a single institute. VIB’s technology transfer activities translate research results into new economic ventures which, in time, lead to new products that can be used in medicine, agriculture and other applications. VIB also engages actively in the public debate on biotechnology by developing and disseminating a wide range of science-based information about all aspects of biotechnology. More information:http://www.vib.be.

Ghent University

After more than twenty years of uninterrupted growth, Ghent University is now one of the most important institutions of higher education and research in the Low Countries. Ghent University yearly attracts over 41,000 students, with a foreign student population of over 2,200 EU and non-EU citizens. Ghent University offers a broad range of study programs in all academic and scientific fields. With a view to cooperation in research and community service, numerous research groups, centers and institutes have been founded over the years.

For more information http://www.UGent.be.

Source: www.vib.be

Successful precision medicine will require more accurate genome sequencing

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On average, one fifth of each of these medically important genes is challenging for today’s gene sequencing methods to decipher, and the information in these gene regions may be key to a patient’s diagnosis or treatment plan.

To optimize medical care, an accurate account of each patient’s genetic code is needed to predict risk for disease and to select appropriate medication. The study by researchers from Stanford University highlights the medical consequences of sequencing errors.

Such errors include false positives (identifying genetic mutations that aren’t really there) as well as false negatives (failing to detect legitimate disease-causing mutations). Both can have profound consequences for patient care. For example, a false positive mutation in BRCA2, a well-known gene associated with hereditary breast and ovarian cancer, could lead to risk-reducing surgeries, such as double mastectomy and oophorectomy. Thus, a wrongly identified mutation could potentially lead to radical and unnecessary surgeries.

The Stanford team used a gold-standard genome sequence, provided by the US National Institute of Standards and Technology (NIST). This genome, belonging to a female of European ancestry, had been previously sequenced with five different sequencing technologies. The NIST team combined the results from all five technologies to develop a reliable consensus sequence in regions of the genome where the technologies agreed. A reliable consensus was achieved for just 77% of this donor’s genome.

Looking at how these “high confidence” areas of the donor’s genome overlap with 3,300 genes known to cause human disease, the researchers found that for 593 of these genes, less than half of the crucial protein-coding regions are in areas that can reliably be sequenced.

There is a group of 56 disease genes regarded as most medically “actionable” by the American College of Medical Genetics and Genomics (ACMG), including BRCA2. ACMG guidelines now require clinical genetic testing labs to screen all patients undergoing exome or genome sequencing for disease-causing mutations in these 56 genes, which are involved in treatable conditions ranging from hereditary cancer to life-threatening cardiac arrhythmias. A patient might initially undergo sequencing to identify the cause of their autism, for example, yet would also be informed of an incidental finding in BRCA2, with the goal of predicting or even preventing disease.

Yet for these medically-important genes, the Stanford researchers found that only 80% of each gene’s protein-coding regions, on average, can be sequenced with confidence.

This study also shows that the majority of disease-causing mutations identified to date fall within easy-to-sequence areas. Specifically, among disease-causing mutations catalogued in the database ClinVar, more than 80% fall within high-confidence regions of the NIST genome. Furthermore, the overwhelming majority of these ClinVar mutations (greater than 98%) are in stretches of unique DNA sequence, long known to be easier to sequence.

These findings highlight the need for sequencing methods that better penetrate hard-to-sequence regions of the genome, accurately revealing disease-causing mutations there that may currently be obscured.

Lead author Rachel Goldfeder, from Stanford University, says, “As this technology moves from the research lab to the clinic, we need to be able to accurately and reliably sequence entire genomes, because incorrect sequence information can lead to inappropriate medical care. The good news is that, in this case, 77% of the donor’s genome was reliably sequenced using current methods. The challenge now is to focus our efforts on the other 23%–namely, on regions of the genome that remain elusive. Only then can we realize the full potential of precision medicine.”

Media Contact

Alanna Orpen

  • PR Assistant
  • BioMed Central
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Notes to editor:

  1. Medical implications of technical accuracy in genome sequencing
    • Rachel L. Goldfeder, James R. Priest, Justin M. Zook, Megan Grove, Daryl Waggott, Matthew Wheeler, Marc Salit, Euan Ashley
    • Genome Medicine 2016
    • During the embargo period, please contact Alanna Orpen for a copy of the article.
    • After the embargo lifts, the article will be available at the journal website here: http://genomemedicine.biomedcentral.com/articles/10.1186/s13073-016-0269-0
    • Please name the journal in any story you write. If you are writing for the web, please link to the article. All articles are available free of charge, according to BioMed Central’s open access policy.
  2. An open access journal at the cutting edge of genomic and high-throughput technologies, medical discovery, and clinical application, Genome Medicine publishes high quality peer-reviewed articles of broad interest. Current areas of focus include precision medicine, novel methods and software, disease genomics and epigenomics, immunogenomics, infectious disease, microbiome, and systems medicine.
  3. BioMed Central is an STM (Science, Technology and Medicine) publisher which has pioneered the open access publishing model. All peer-reviewed research articles published by BioMed Central are made immediately and freely accessible online, and are licensed to allow redistribution and reuse. BioMed Central is part of Springer Nature, a major new force in scientific, scholarly, professional and educational publishing, created in May 2015 through the combination of Nature Publishing Group, Palgrave Macmillan, Macmillan Education and Springer Science+Business Media. http://www.biomedcentral.com

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

Source: Eurekalert

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