Jun 13, 2018 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
Access to vast banks of genomic data is powering a new wave of assessments and predictions that could offer a glimpse at how genetic variation might impact everything from Alzheimer’s Disease risk to IQ scores
Anatomic pathology groups and clinical laboratories have become accustomed to performing genetic tests for diagnosing specific chronic diseases in humans. Thanks to significantly lower costs over just a few years ago, whole-genome sequencing and genetic DNA testing are on the path to becoming almost commonplace in America. BRCA 1 and BRCA 2 breast cancer gene screenings are examples of specific genetic testing for specific diseases.
However, a much broader type of testing—called polygenic scoring—has been used to identify certain hereditary traits in animals and plants for years. Also known as a genetic-risk score or a genome-wide score, polygenic scoring is based on thousands of genes, rather than just one.
Now, researchers in Cambridge, Mass., are looking into whether it can be used in humans to predict a person’s predisposition to a range of chronic diseases. This is yet another example of how relatively inexpensive genetic tests are producing data that can be used to identify and predict how individuals get different diseases.
Assessing Heart Disease Risk through Genome-Wide Analysis
Sekar Kathiresan, MD, Co-Director of the Medical and Population Genetics program at Broad Institute of MIT/Harvard and Director of the Center for Genomics Medicine at Massachusetts General Hospital (Mass General); and Amit Khera, MD, Cardiology Fellow at Mass General, told MIT Technology Review “the new scores can now identify as much risk for disease as the rare genetic flaws that have preoccupied physicians until now.”
“Where I see this going is that, at a young age, you’ll basically get a report card,” Khera noted. “And it will say for these 10 diseases, here’s your score. You are in the 90th percentile for heart disease, 50th for breast cancer, and the lowest 10% for diabetes.”
However, as the MIT Technology Review article points out, predictive genetic testing, such as that under development by Khera and Kathiresan, can be performed at any age.
“If you line up a bunch of 18-year-olds, none of them have high cholesterol, none of them have diabetes. It’s a zero in all the columns, and you can’t stratify them by who is most at risk,” Khera noted. “But with a $100 test we can get stratification [at the age of 18] at least as good as when someone is 50, and for a lot of diseases.”
Sekar Kathiresan, MD (left), Co-Director of the Medical and Population Genetics program at Broad Institute at MIT/Harvard and Director of the Center for Genomics Medicine at Massachusetts General Hospital; and Amit Khera, MD (right), Cardiology Fellow at Mass General, are researching ways polygenic scores can be used to predict the chance a patient will be prone to develop specific chronic diseases. Anatomic pathology biomarkers and new clinical laboratory performed genetic tests will likely follow if their research is successful. (Photo copyrights: Twitter.)
Polygenic Scores Show Promise for Cancer Risk Assessment
Khera and Kathiresan are not alone in exploring the potential of polygenic scores. Researchers at the University of Michigan’s School of Public Health looked at the association between polygenic scores and more than 28,000 genotyped patients in predicting squamous cell carcinoma.
“Looking at the data, it was surprising to me how logical the secondary diagnosis associations with the risk score were,” Bhramar Mukherjee, PhD, John D. Kalbfleisch Collegiate Professor of Biostatistics, and Professor of Epidemiology at U-M’s School of Public Health, stated in a press release following the publication of the U-M study, “Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.”
“It was also striking how results from population-based studies were reproduced using data from electronic health records, a database not ideally designed for specific research questions and [which] is certainly not a population-based sample,” she continued.
Additionally, researchers at the University of California San Diego School of Medicine (UCSD) recently published findings in Molecular Psychiatry on their use of polygenic scores to assess the risk of mild cognitive impairment and Alzheimer’s disease.
The UCSD study highlights one of the unique benefits of polygenic scores. A person’s DNA is established in utero. However, predicting predisposition to specific chronic diseases prior to the onset of symptoms has been a major challenge to developing diagnostics and treatments. Should polygenic risk scores prove accurate, they could provide physicians with a list of their patients’ health risks well in advance, providing greater opportunity for early intervention.
Future Applications of Polygenic Risk Scores
In the January issue of the British Medical Journal (BMJ), researchers from UCSD outlined their development of a polygenic assessment tool to predict the age-of-onset of aggressive prostate cancer. As Dark Daily recently reported, for the first time in the UK, prostate cancer has surpassed breast cancer in numbers of deaths annually and nearly 40% of prostate cancer diagnoses occur in stages three and four. (See, “UK Study Finds Late Diagnosis of Prostate Cancer a Worrisome Trend for UK’s National Health Service,” May 23, 2018.)
An alternative to PSA-based testing, and the ability to differentiate aggressive and non-aggressive prostate cancer types, could improve outcomes and provide healthcare systems with better treatment options to reverse these trends.
While the value of polygenic scores should increase as algorithms and results are honed and verified, they also will most likely add to concerns raised about the impact genetic test results are having on patients, physicians, and genetic counselors.
And, as the genetic testing technology of personalized medicine matures, clinical laboratories will increasingly be required to protect and distribute much of the protected health information (PHI) they generate.
Nevertheless, when the data produced is analyzed and combined with other information—such as anatomic pathology testing results, personal/family health histories, and population health data—polygenic scores could isolate new biomarkers for research and offer big-picture insights into the causes of and potential treatments for a broad spectrum of chronic diseases.
—Jon Stone
Related Information:
Forecasts of Genetic Fate Just Got a Lot More Accurate
Polygenic Scores to Classify Cancer Risk
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-Wide Study: Results from the Michigan Genomics Initiative
Polygenic Risk Score May Identify Alzheimer’s Risk in Younger Populations
Use of an Alzheimer’s Disease Polygenic Risk Score to Identify Mild Cognitive Impairment in Adults in Their 50s
New Polygenic Hazard Score Predicts When Men Develop Prostate Cancer
Polygenic Hazard Score to Guide Screening for Aggressive Prostate Cancer: Development and Validation in Large Scale Cohorts
UK Study Finds Late Diagnosis of Prostate Cancer a Worrisome Trend for UK’s National Health Service
Jun 8, 2018 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory Pathology, Laboratory Testing
As standard masks are used they collect exhaled airborne pathogens that remain living in the masks’ fibers, rendering them infectious when handled
Surgical-style facial masks harbor a secret—viruses that could be infectious to the people wearing them. However, masks can become effective virus killers as well. At least that’s what researchers at the University of Alberta (UAlberta) in Edmonton, Canada, have concluded.
If true, such a re-engineered mask could protect clinical laboratory workers from exposure to infectious diseases, such as, SARS (Severe Acute Respiratory Syndrome), MERS (Middle East Respiratory Syndrome), and Swine Influenza.
“Surgical masks were originally designed to protect the wearer from infectious droplets in clinical settings, but it doesn’t help much to prevent the spread of respiratory diseases such as SARS or MERS or influenza,” Hyo-Jick Choi, PhD, Assistant Professor in UAlberta’s Department of Chemical and Materials Engineering, noted in a press release.
So, Choi developed a mask that effectively traps and kills airborne viruses.
Clinical Laboratory Technicians at Risk from Deadly Infectious Diseases
The global outbreak of SARS in 2003 is a jarring reminder of how infectious diseases impact clinical laboratories, healthcare workers, and patients. To prevent spreading the disease, Canadian-based physicians visited with patients in hotel rooms to keep the virus from reaching their medical offices, medical laboratory couriers were turned away from many doctors’ offices, and hospitals in Toronto ceased elective surgery and non-urgent services, reported The Dark Report—Dark Daily’s sister publication. (See The Dark Report, “SARS Challenges Met with New Technology,” April 14, 2003.)
UAlberta materials engineering professor Hyo-Jick Choi, PhD, (right) and graduate student Ilaria Rubino (left) examine filters treated with a salt solution that kills viruses. Choi and his research team have devised a way to improve the filters in surgical masks, so they can trap and kill airborne pathogens. Clinical laboratory workers will especially benefit from this protection. (Photo and caption copyright: University of Alberta.)
How Current Masks Spread Disease
How do current masks spread infectious disease? According to UAlberta researchers:
- A cough or a sneeze transmits airborne pathogens such as influenza in aerosolized droplets;
- Virus-laden droplets can be trapped by the mask;
- The virus remains infectious and trapped in the mask; and,
- Risk of spreading the infection persists as the mask is worn and handled.
“Aerosolized pathogens are a leading cause of respiratory infection and transmission. Currently used protective measures pose potential risk of primary and secondary infection and transmission,” the researchers noted in their paper, published in Scientific Reports.
That’s because today’s loose-fitting masks were designed primarily to protect healthcare workers against large respiratory particles and droplets. They were not designed to protect against infectious aerosolized particles, according to the Centers for Disease Control and Prevention (CDC).
In fact, the CDC informed the public that masks they wore during 2009’s H1N1 influenza virus outbreak provided no assurance of infection protection.
“Face masks help stop droplets from being spread by the person wearing them. They also keep splashes or sprays from reaching the mouth and nose of the person wearing the face mask. They are not designed to protect against breathing in very small particle aerosols that may contain viruses,” a CDC statement noted.
Pass the Salt: A New Mask to Kill Viruses
Choi and his team took on the challenge of transforming the filters found on many common protective masks. They applied a coating of salt that, upon exposure to virus aerosols, recrystallizes and destroys pathogens, Engineering360 reported.
“Here we report the development of a universal, reusable virus deactivation system by functionalization of the main fibrous filtration unit of surgical mask with sodium chloride salt,” the researchers penned in Scientific Reports.
The researchers exposed their altered mask to the influenza virus. It proved effective at higher filtration compared to conventional masks, explained Contagion Live. In addition, viruses that came into contact with the salt-coated fibers had more rapid infectivity loss than untreated masks.
How Does it Work?
Here’s how the masks work, according to the researchers:
- Aerosol droplets carrying the influenza virus contact the treated filter;
- The droplet absorbs salt on the filter;
- The virus is exposed to increasing concentration of salt; and,
- The virus is damaged when salt crystallizes.
“Salt-coated filters proved highly effective in deactivating influenza viruses regardless of [influenza] subtypes,” the researchers wrote in Scientific Reports. “We believe that [a] salt-recrystallization-based virus deactivation system can contribute to global health by providing a more reliable means of preventing transmission and infection of pandemic or epidemic diseases and bioterrorism.”
Other Reports on Dangerous Exposure for Clinical Laboratory Workers
This is not the first time Dark Daily has reported on dangers to clinical laboratory technicians and ways to keep them safe.
In “Health of Pathology Laboratory Technicians at Risk from Common Solvents like Xylene and Toluene,” we reported on a 2011 study that determined medical laboratory technicians who handle common solvents were at greater risk of developing auto-immune connective tissue diseases.
And more recently, in “Europe Implements New Anatomic Pathology Guidelines to Reduce Nurse Exposure to Formaldehyde and Other Toxic Histology Chemicals,” we shared information on new approaches to protect nurses from contacting toxic chemicals, such as formalin, toluene, and xylene.
The UAlberta team may have come up with an inexpensive, simple, and effective way to protect healthcare workers and clinical laboratory technicians. Phlebotomists, laboratory couriers, and medical technologists also could wear the masks as protection from accidental infection and contact with specimens. It will be interesting to follow the progress of this special mask with its salty filter.
—Donna Marie Pocius
Related Information:
Researcher Turns “SARS Mask” into a Virus Killer
Universal Reusable Virus Deactivation System for Respiratory Protection
Understanding Respiratory Protection Options in Healthcare
H1N1 Flu and Masks
Arming Surgical Masks to Kill Viruses
New Surgical Mask Designed to Kill Viruses
SARS Challenges Met with New Technology
Toronto Hospital Labs Cope with SARS Impact
Europe Implements New Anatomic Pathology Guidelines to Reduce Nurse Exposure to Formaldehyde and Other Toxic Histology Chemicals
Health of Laboratory Technicians at Risk from Common Solvents Like Xylene and Toluene
Jun 4, 2018 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Pathology, Management & Operations
New scientific insights from these studies represent progress in the effort to develop a clinical laboratory test that would enable physicians to diagnose Alzheimer’s Disease earlier and with greater accuracy
Most medical laboratory professionals are aware that, for more than 30 years, in vitro diagnostic (IVD) developers and pharmaceutical researchers have sought the Holy Grail of clinical laboratory testing—an accurate test for Alzheimer’s disease that is minimally-invasive and produces information that is actionable by clinicians at a reasonable cost. Such a test could spark a revolution in the diagnosis and treatment of this debilitating disease and would improve the lives of tens of thousands of people each year.
Now, two different research studies being conducted in Germany and Japan may have developed such tests that use blood samples. The tests detect specific biomarkers found in Alzheimer’s patients and one day could enable physicians to diagnose the disease in its preclinical stages.
German Test Identifies Amyloid-Beta Biomarker
The test under development at Ruhr University in Bochum, Germany, detects the presence of amyloid-beta, a component of amyloid plaque (AKA, amyloid-β plaques), which has consistently been found in Alzheimer’s patents, according to United Press International (UPI).
A healthy brain has amyloid-beta plaques, too. However, in a person with Alzheimer’s disease, the amyloid-beta is misfolded, formed like a sheet, and toxic to nerve cells, the researchers explained in a press release.
The test works with small amounts of blood plasma and employs an immuno-infrared-sensor, also developed at Ruhr University. The sensor measures the amounts of both pathological (the misfolded kind) and healthy amyloid-beta in the blood.
Amyloid plaques can start to form decades prior to the onset of Alzheimer’s symptoms, making them identifiable biomarkers that can be used as a “preselection funnel in two‐step diagnostics,” the researchers noted.
“The use of the immuno‐infrared‐sensor as an initial screening funnel to identify people who should undergo further diagnostics and eventually take part in clinical trials on therapeutics targeting Aβ misfolding might already be an important step forward because subjects with early AD stages are hard to identify,” the researchers note. “To our knowledge, there is today no other plasma test available, which has been tested both in an AD research cohort and in the general population.”
Klaus Gerwert, PhD, (left) Chair of Biophysics at Ruhr University in Bochum, Germany, and Dr. Katsuhiko Yanagisawa, PhD, (right) molecular biologist and Director of the Center for Development of Advanced Medicine for Dementia in Obu City, Japan, both lead research teams that developed tests for identifying amyloid-β biomarkers in early onset Alzheimer’s patients. More research must be conducted before these assays could be offered by clinical laboratories. (Photo copyrights: International Max Planck Research School in Chemical and Molecular Biology/Nagoya University School of Medicine.)
Another Blood Test Finds Amyloid-Beta
Interestingly, just a few months ahead of the German researchers’ paper, scientists at the Center for Development of Advanced Medicine for Dementia (CAMD) in Obu City, Japan, published their own paper on a similar blood test they developed that also identifies high levels of amyloid-beta in patients with Alzheimer’s.
However, according to a news release, the Japanese study involved the use of immunoprecipitation and mass spectrometry to measure amyloid-beta related fragments in the blood.
The study, which was published in Nature, involved 373 people: 121 Japanese in the discovery cohort set and 252 Australians in the validation data set. The test found amyloid-beta levels in the brain with 90% accuracy, The Scientist reported.
“These results demonstrate the potential clinical utility of plasma biomarkers in predicting brain amyloid-β burden at an individual level. These plasma biomarkers also have cost-benefit and scalability advantages over current techniques, potentially enabling broader clinical access and efficient population screening,” the researchers wrote in their paper.
Previous Alzheimer’s Research
These studies are not the first to seek biomarkers that could detect the early-onset of Alzheimer’s disease. In 2016, Dark Daily reported on two other studies: one conducted at Rowan University School of Osteopathic Medicine (RowanSOM) and another by IVD company Randox Laboratories. (See Dark Daily, “Two Different Research Teams Announce Tests for Alzheimer’s Disease That Could Be Useful for Clinical Laboratories after Clearance by the FDA,” November 30, 2016.)
Nevertheless, as of 2018, Alzheimer’s disease has impacted the lives of approximately 5.7 million Americans of all ages, according to the Alzheimer’s Association. And yet, doctors currently only have expensive positron emission tomography (PET) brain scans and invasive cerebrospinal fluid (CSF) analysis to identify the disease, generally in the latter stages of its development.
Thus, a less invasive, inexpensive test that accurately identifies biomarkers found in the majority of people during the early stages of the disease would be a boon to physicians who treat chronic neurodegenerative disease, medical laboratories that perform the tests, and, of course, the thousands of people each year who are diagnosed and suffer with this debilitating condition.
—Donna Marie Pocius
Related Information:
Blood Test Can Detect Alzheimer’s Years Before Symptoms
New Blood Test Useful to Detect People at Risk of Developing Alzheimer’s Disease
Blood Test Detects Alzheimer’s Before Symptoms Appear
Blood Test May Detect Very Early Alzheimer’s
Simple Blood Test Spots Dementia Protein
High Performance Plasma Amyloid-Beta Biomarkers for Alzheimer’s Disease
Researchers Develop Potential Blood Test for Alzheimer’s Disease
Japan Researchers Develop Cheap and Easy Way to Diagnose Alzheimer’s
Two Different Research Teams Announce Tests for Alzheimer’s Disease That Could Be Useful for Clinical Laboratories After Clearance by the FDA
May 16, 2018 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
Harvard School of Medicine researcher discovers only a fraction of all known human genes are ever included in research studies
It seems every day that diagnostic test developers are announcing new genetic tests for everything from researching bloodlines to predicting vulnerability to specific chronic diseases. However, as most pathologists know, there are more than 20,000 protein-coding genes in the human genome. Thus, an overwhelming majority of genes are not being researched or studied.
That’s according to Peter Kerpedjiev, PhD, a Postdoctoral Fellow at Harvard Medical School in Boston. Kerpedjiev analyzed US National Library of Medicine (NLM) data from its PubMed database. He found that roughly 25% of the articles tagged by the NLM only featured 100 of the 20,000 human genes.
Kerpedjiev studied approximately 40,000 NLM articles that were tagged as describing the structure, function, or location of a particular gene. He then created a list of the top-10 most-studied genes of all time, which contained interesting and unforeseen disclosures.
“The list was surprising,” Kerpedjiev told Nature. “Some genes were predictable; others were completely unexpected.”
Guardian of the Genome
According Kerpedjiev, the top-10 most-studied genes are:
- TP53;
- TNF;
- EGFR;
- VEGFA;
- APOE;
- IL6;
- TGFBI;
- MTHFR;
- ESR1; and,
- AKT1.
Kerpedjiev discovered that the top gene on the list—Tumor protein p53 (TP53)—was mentioned in about 8,500 articles to date, and that it is typically included in about two PubMed papers per day. When he began his research three years ago, TP53 was referenced in about 6,600 articles.
Peter Kerpedjiev, PhD (above), is a Postdoctoral Fellow in the lab of Nils Gehlenborg at Harvard Medical School. Previously, he was a PhD student working on modelling the tertiary structure of RNA molecules at the Theoretical Biochemistry Group at the University of Vienna. (Photo and caption copyright: Gehlenborg Lab.)
The National Library of Medicine describes the TP53 gene as a tumor suppressor that regulates cell division by preventing cells from growing and proliferating too quickly or uncontrolled. It is mutated in approximately half of all human cancers and is often referred to as the “guardian of the genome.”
“That explains its staying power,” Bert Vogelstein, MD, Professor of Oncology and Pathology at Johns Hopkins School of Medicine in Baltimore, Md., told Nature. “In cancer, there’s no gene more important.”
Critical Roles in Prevention/Treatment of Chronic Disease
The remaining genes on the list also have crucial roles in the functioning of the human body and disease prevention and treatment. Below is a brief summary of genes two through 10 on the list:
TNF encodes a proinflammatory cytokine that is part of the tumor necrosis factor superfamily. This family of proteins was originally distinguished by their ability to cause the necrosis of neoplasms. The TNF gene has been a drug target for cancer and inflammatory diseases, such as:
EGFR makes a protein known as the epidermal growth factor receptor, which positions the cell membrane to bind to other proteins outside the cell to help it receive signals to trigger cell growth, division, and survival. At least eight known mutations of the EGFR gene have been associated with lung cancer and often appear in drug-resistant cases of the disease.
Vascular Endothelial Growth Factor A (VEGFA) contains a heparin-binding protein that promotes the growth of blood vessels and is critical for physiological and pathological angiogenesis. Variants of the VEGFA gene have been affiliated with microvascular complications of diabetes mellitus and atherosclerosis.
ApoE produces a protein named Apolipoprotein E, which combines with lipids in the body to form lipoproteins that carry cholesterol and other fats through the bloodstream. ApoE-e3 is the most common allele (a variant of the gene) and is found in more than 50% of the general population. In addition to its role in cholesterol and lipoprotein metabolism, ApoE is also associated with:
- Alzheimer’s disease;
- Age-related hearing loss; and,
- Macular degeneration.
Interleukin 6 (IL6) is a cytokine that is mainly produced at locations of acute and chronic inflammation. Once there, it is secreted into the serum where it incites an anti-inflammatory response. The IL6 gene is connected with inflammation-associated diseases such as:
Transforming Growth Factor Beta 1 (TGFB1) initiates chemical signals that regulate various cell activities including the proliferation, maturation, differentiation, motility, and apoptosis of cells throughout the body. The protein created by TGFB1 is abundant in skeletal tissues and regulates the formation and growth of bones and cartilage. Mutations in the TGFB1 gene have been associated with breast, colorectal, lung, liver, and prostate cancers. At least 12 mutations of this gene are known to cause Camurati-Engelmann disease, which is distinguished by hyperostosis (abnormally thick bones) in the arms, legs, and skull.
MTHFR makes methylenetetrahydrofolate reductase, an enzyme that performs a crucial role in processing amino acids. Polymorphisms of this gene have been linked to risk factors for a variety of conditions including:
- Cardiovascular disease;
- Stroke;
- Hypertension;
- Pre-eclampsia;
- Glaucoma;
- Psychiatric disorders; and,
- Various cancers.
Estrogen Receptor 1 (ESR1) is a ligand-activated transcription factor that is significant for hormone and DNA binding. Estrogen and its receptors are crucial for sexual development and reproductive functions. They also can affect pathological processes including breast and endometrial cancers and osteoporosis.
AKT1 provides instructions for producing a protein known as AKT1 kinase that is located in many cell types throughout the body and is essential for the development and function of the nervous system. This gene belongs to a classification of genes known as oncogenes, which when mutated have the potential to cause normal cells to turn cancerous.
We Don’t Know What We Don’t Know
“It’s revealing how much we don’t know about because we just don’t bother to research it,” noted Dr. Helen Anne Curry, Senior Lecturer and Historian of Modern Science and Technology at the University of Cambridge, UK, in the Nature article. As far back as 2010, Dark Daily reported on university researchers predicting massive growth in anatomic pathology and clinical laboratory diagnostic testing based on the human genome.
How Kerpedjiev’s discovery might impact future genetic diagnostic test development remains to be seen. It will, however, be fascinating to see how this top-10 list of the most studied genes will change over time and how medical laboratory genetic testing may be affected.
—JP Schlingman
Related Information:
The Most Popular Gene in the Human Genome
Top 10 Genes in the Human Genome (by Number of Citations)
Explore the Normal Functions of Human Genes and the Health Implications of Genetic Changes
Stanford Study Shows How Pathologists May Eventually Use the Whole Human Genome for Diagnostic Purposes
May 14, 2018 | Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Sales and Marketing, Management & Operations
Genetic counselors struggle to explain direct-to-consumer genetic test data—or correct provider misinterpretations of results—while often encountering resistance and anger from patients who don’t accept their counseling
Healthcare consumers who want to know more about their family’s genealogy are purchasing direct-to-consumer (DTC) home genetic tests in record numbers. It is a trend that worries some medical laboratory professionals and certain federal government agencies.
MIT Technology Review (MIT) dubbed 2017, “The year consumer DNA testing blew up.” As a result of record-breaking sales of DTC genetic testing last year, about 12-million people have now been tested, MIT reported. “The inflection pointed started in the summer of 2016, and from there it’s gone into the stratosphere,” David Mittelman, PhD, Molecular Biophysics, told MIT.
Clearly, consumers are becoming comfortable with the concept of genetic testing on themselves and their family members. However, major issues—such as who owns genetic information and how patient privacy is protected—have yet to be resolved.
Dark Daily recently reported that more than 1.5 million kits were sold by Ancestry.com during the four-day Black Friday/Cyber Monday weekend prior to Christmas 2017. That e-briefing also explored related privacy issues and informed readers about efforts by federal lawmakers to explore genetic testing companies’ privacy and disclosure practices.
According to a news release, by the end of November, sales of AncestryDNA kits exceeded the total number of subscribers the Utah-based company had when it started the year. Now, more than seven million people are in Ancestry’s database.
Meanwhile, 23andMe, a personal genomics company established in 2006, has genotyped more than three million people worldwide. In addition to an ancestry test, it offers a health and ancestry service providing information on genetic health risks, carrier status, traits, wellness, and ancestry, according to the company’s website.
Experts Concerned About Privacy and Use of ‘Raw’ DNA Data
“2018 will bring a regular drumbeat of new experiences and enhancements across both DNA and family history,” Howard Hochhauser, Ancestry’s Interim Chief Executive Officer, predicted in the news release.
However, a recent study published in Translational Behavioral Medicine (TBM) which noted the robust sales of DTC genetic tests in 2017, also called attention to a new concern surrounding the impact of “raw” DNA interpretation results.
“People often enter the direct-to-consumer market for recreational purposes, such as learning about their ancestry. Yet, what we started seeing was that these same individuals subsequently come across third-party interpretation services where they proceeded to learn more about their ‘raw’ DNA made available by the ancestry testing companies,” stated Catharine Wang, PhD, Boston University (BU) Associate Professor of Community Health Sciences, and the study’s lead author, in a BU statement.
The study cited sales of DTC genetic tests at $99 million in 2017 and explored potential negative implications of consumers’ access to “raw” DNA data.
“We were especially interested in the downstream implications of receiving unexpected disease risk information from these newer services that subsequently lead consumers to seek out a genetic counselor’s consult,” Wang noted.
Catharine Wang, PhD (above), Associate Professor of Community Health Sciences at Boston University and lead author of the study, notes, “There are a lot of people saying, ‘I’m smart enough to make decisions; give me the information and get the doctors out of the way. But they’re making some serious decisions about their health after seeing only part of the picture.” (Photo copyright: Boston University Research.)
After Getting DNA Data, Consumers Turn to Interpretation Services, Genetic Counselors
The research team surveyed 85 genetic counselors. Fifty-three percent of them reported meeting with DTC test costumers who had accessed ‘raw’ DNA data and used genetic interpretation companies, which are not regulated by the US Food and Drug Administration (FDA), to get more information about themselves. However, results of the sessions were not always positive for either patients or counselors.
According to the study, counselors reported their biggest challenge as “undoing misinterpretations and correcting patient beliefs about their raw DNA results.”
The study noted, “When genetic counselors tried to clarify misunderstandings, patients were not only resistant but sometimes appeared hurt and frustrated that counselors were not taking their results seriously.”
Other negative experiences counselors reported while interpreting “raw” DNA test results for patients include:
- “Time required to review and understand interpretation reports;
- “Feeling ill equipped and uncomfortable providing the service;
- “A lack of supportive organizational structure; and,
- “[Having to] correct a patient’s misunderstanding, following a primary care physician’s misinterpretation of her raw DNA results.”
“Counselors expressed concern about the quality of the raw data and the clarity and usefulness of interpretation reports. Efforts to better support both consumers and genetic service providers are needed to maximize the effective translation of genome-based knowledge for population health,” the study authors concluded.
Providers Should Improve Ability to Help Patients with DTC Genetic Data
In a MedCity News blog post, Peter Hulick, MD, Director of Personalized Medicine, NorthShore University HealthSystem, called for healthcare providers to assist patients who are dealing with new DTC genetic services and possible data overload.
“Findings show having widespread access to personal genetic information—without the knowledge of how to interpret results—can lead to problems ranging from misinterpretation to emotional distress,” he noted. “The medical community must work harder and smarter to incorporate this information into practice and empower patients as consumers and partners in healthcare decision-making.”
Anatomic pathologists and clinical laboratory leaders also should acknowledge and monitor consumers’ growing interest in these tests. Once patients’ have their DNA sequenced, the likelihood they will seek to know their predisposition to diseases is high and increasing. Thus, opportunities exist for medical laboratories to help physicians and consumers interpret DTC test results.
—Donna Marie Pocius
Related Information:
2017 Was the Year Consumer DNA Testing Blew Up
AncestryDNA Breaks Holiday Sales Record; Black Friday-Cyber Monday
At-Home Genetic Testing Leads to Misinterpretations of Results
The Impact of Raw DNA Availability and Corresponding Online Interpretation Services: A Mixed Methods Study
Consumer Interest in Genetic Testing is Exploding: Are Providers Ready?
Confronting Cancer
Sales of Direct-to-Consumer Clinical Laboratory Genetic Tests Soar, as Members of Congress Debate How Patient Data Should be Handled, Secured, and Kept Private
May 11, 2018 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory Pathology, Laboratory Testing
Chronic disease monitoring at home has become a boon to patients as well as hospitals that are finding cost savings in programs designed to monitor/treat patients at external locations
Many clinical pathologists and medical laboratory scientists will be wary about the news that a California company wants to have cancer patients do their own CBCs at home, and that a device to enable such testing is being prepped to go through the FDA clearance process.
Home-based medicine care and chronic disease therapy treatments are gaining in popularity. Patients, understandably, would prefer to stay in the comfort of their homes then be exposed to stressful, germ-laden healthcare environments. And healthcare providers are finding cost savings in home-healthcare programs, which Dark Daily recently reported.
However, each new breakthrough in home medical care impacts clinical laboratories when specimen collection, near-patient medical laboratory testing, and therapy administration/monitoring shifts from traditional healthcare environments to home settings.
Nevertheless, new devices that enable chronic disease patients to monitor and report findings to care providers continue to be developed and embraced by healthcare consumers.
Complete Blood Count at Home
One such device from Athelas, a diagnostic test developer based in Mountain View, Calif., makes it easier and less expensive for patients undergoing cancer therapy to monitor their complete blood counts (CBC) at home without the need to travel to a doctor or medical laboratory to have the blood work performed, Medgadget reported. The device, which is undergoing the FDA Class 2 clearance process, enables patients to test their complete blood count (CBC) in the privacy of their own homes and report the results to their oncologists.
Athelas co-founders Tanay Tandon (left) and Deepika Bodapati (right) secured $3.7 million in funding from Sequoia Capital, Y Combinator, and NVIDIA, to produce their blood analysis device. (Photo copyright: Sina.)
To use the Athelas device, patients perform a simple finger prick and place a drop of blood on a proprietary testing strip. The strip is then inserted into the device where the blood is analyzed. Patients can view their lab-grade blood test results in about a minute.
Information gathered by the device can be sent to Android or iOS devices/apps and also to the patient’s doctor. The process allows patients and their doctors to receive frequent updates for monitoring treatments and disease progression and precisely observe changes in immune health.
According to Athelas, in about 60 seconds the blood analyzer provides accurate reading for:
“Athelas is bringing cancer patients a quick and reliable way to test their blood levels from within their home,” noted Alfred Lin, partner at Sequoia, in a statement. “Their new platform empowers patients to confidently monitor their condition and will cut down on unnecessary urgent care visits. We believe in Tanay and Deepika’s bold vision to transform at-home blood tests into an easy and accurate diagnostics tool that’s as trusted as a thermometer.”
The home-testing platform will cost consumers $20 per month, which Athelas hopes will eventually be covered by insurance companies.
Additional Benefits to At-Home Monitoring
The Athelas device also has functions beyond chronic disease monitoring. It can be used to determine if a viral or bacterial infection is present in an individual. In addition, the company is currently testing the machine with 100 patients at risk for a cardiac event to evaluate whether or not it can predict such an event days before it occurs.
“There’s a lot of research out there that shows inflammatory markers inside your own body will spike a couple days in advance,” Tandon told TechCrunch.
In the video above, Deepika Bodapati, co-founder of Athelas, describes how the diagnostic device operates. Click on the image above to view the video. (Video copyright: TechCrunch.)
The Athelas device is not yet cleared to market by the Food and Drug Administration (FDA) and more clinical research may be needed to validate the efficacy of the product. Athelas is currently loaning the device to cancer patients for the purpose of monitoring their chemotherapy progress, and is conversing with healthcare professionals, hospitals, and pharmaceutical companies regarding the benefits of the device.
Other CBC Devices
In 2017, Sysmex America announced it had received clearance from the FDA for the Sysmex XW-100 hematology analyzer, the first CBC system that allows in-house staff to perform CBC tests at Clinical Laboratory Improvement Amendments (CLIA)-waived locations. The Dark Report reported on this last year. (See TDR, “FDA Clears Waived CBC For Near-Patient Testing,” November 20, 2017.”
The XW-100 device enables physicians to perform in-office blood tests and receive results in as little as three minutes. This allows treatment plans to be initiated without interacting with clinical laboratories, which clearly impacts test ordering and lab revenue.
At-home and onsite blood testing devices serve an important role in patient care and provide healthcare professionals with expeditious and convenient test results. However, with the arrival of these new technologies, clinical laboratories will need to find new ways to bring value to physicians who employ them in their offices.
—JP Schlingman
Related Information:
Athelas Device Provides Accurate CBC Testing—From Home
Athelas Launches a New Type of Blood Testing Device for the Home
Precise Blood Testing from a Fingerprick? Tanay Tandon and Deepika Bodapati Think It’s Possible
Athelas Releases Automated Blood Testing Kit for Home Use
Athelas Announces $3.7m Funding Led by Sequoia Capital
Primary Care Doctors Can Provide Blood Test Results in Minutes, Onsite, With New Sysmex XW-100
