Could clinical laboratories use texting to improving patient compliance with the medical laboratory test orders given to them by their doctors?
California’s largest physician-owned medical practice has
employed text messaging to reduce patient no-shows. Just as other innovations such
as same-day walk-in clinical laboratory
testing and patient at-home self-testing made it easier for patients to comply
with physicians’ lab test orders, text messaging appears to help get more
patients through the doors and into doctors’ exam rooms.
At least that’s the experience at Riverside Medical Clinic
(RMC) in Riverside, Calif. The multi-specialty practice has more than 170
providers who see more than 400,000 patients annually. After struggling to
lower its 15% baseline no-show rate using a phone-only reminder system, RMC turned
to a two-way texting appointment reminder system from Santa Barbara, Calif.-based
WELL Health (WELL).
According to a case
study, prior to the texting
system implementation, no-shows were costing RMC more than $3 million per year.
“The problem we were trying to resolve was getting a hold of our
patients in an expedient manner without having to do redundant work,” Diego
Galvez-Ramirez, Associate Vice President, Patient Business Services at
Riverside Medical Clinic, told Healthcare IT News. “We wanted to
give time back to our staff. A big frustration was not having enough time for
staff to accomplish their duties.”
After RMC implemented WELL’s HIPAA-compliant text-based reminder
system, front office efficiency and productivity improved, and the practice
experienced a 33% decrease in appointment no-shows.
Additionally:
No-shows decreased from 15% to 10% within the
first month of going live across the enterprise.
Confirmed appointments rose from 29.45% to
94.45%, translating to a savings of more than $40,000 in two months.
91% of patients who confirmed via WELL presented
for their visit.
Phone volume at RMC’s two call centers decreased
by 4% to 6%.
Galvez-Ramirez suggests that healthcare providers—including
clinical laboratories and anatomic pathology groups—keep pace with the
realities of today’s connected world. “Most of the time, the cell phone is not
used to make phone calls,” he told Healthcare IT News. “You have to adapt
to the new ways that your patients want and are used to communicating.
“In our environment,” he continued, “you also have to be
quick to respond to your patients. No patient wants to spend unnecessary time
on a phone call. Being able to send them their appointment to their phone is
not a new concept, it’s an expectation.”
Based on an Axway survey of 1,200 smartphone users aged 18-60, the graphic above supports the view that text messaging is now the preferred method of communications for most people. Could clinical laboratories employ text messaging to lower patient no-shows and increase the proportion of patients who actually show up at a patient service center to provide a specimen in response to the medical laboratory test orders given to them by their physicians? (Graphic copyright: MakingCharts.com/Axway.)
The WELL messaging app draws a patient’s information from the
physician’s electronic
health record (EHR) system to configure the appointment reminder. This
includes appointment type, date/time, and location. Based on the patient’s
preferred method, the system sends reminder messages via phone, text, or e-mail.
As Healthcare IT News noted, WELL’s competitors in the
patient communication space include:
Texting Reduces No-Shows at Other Healthcare Networks
Other healthcare organizations also have replicated RMC’s
success in reducing its no-show rates by moving away from telephone-based
reminders.
An Athena Health
study examined 54.3 million patient visits in 2015 and found no-show rates
dropped to 4.4% when patients received a reminder text from their provider. By
comparison:
Athena patients who received a phone call
instead of a text failed to show up 9.4% of the time;
E-mail reminders resulted in a 5.9% no-show rate;
and,
10.5% of patients who received no form of
reminder message missed their appointments.
Is Texting Secure and HIPAA Compliant?
A 2018 poll conducted by the Medical
Group Management Association (MGMA) found that 68% of healthcare organizations
used text messaging to communicate with patients about appointments. But is it
secure?
An MGMA
article notes that according to HIPAA Journal,
“Recent changes to HIPAA
have introduced new rules relating to how Protected
Health Information (PHI) should be communicated and many healthcare
organizations and other covered entities are now at risk of financial sanctions
and legal action should an avoidable breach of PHI occur.” The MGMA goes on to
state that, “As text messaging is not typically a fully-secure channel for the
communication of PHI, practices must be vigilant when sending information via
text messages.”
With proper training and precautions, clinical laboratories and
pathology groups might want to add text messaging to their patient outreach
programs. Data indicate that doing so could improve patient compliance with the
medical lab test orders given to them by their physicians. Industry experts
estimate that for every 100 medical lab test requests written by providers,
only about 60% of patients show up to provide the specimens needed for a lab to
perform those tests. Improving on those numbers would help clinical
laboratories and patients alike.
Scientists
at St. Jude’s have discovered that performing different genetic tests on pediatric
cancer patients, and then combining those test results, may help guide and
improve patient care.
The research was part of a St. Jude’s project called Genomes
for Kids (G4K), a study to determine how genetic information may be used to
diagnose and treat pediatric cancers.
Through this project, the researchers hope to learn why tumors form in
children and predict how tumors will respond to certain treatments.
‘It’s
a Whole Lot of Sequencing.’
Few tragedies are worse than cancer in children. This is where precision medicine treatments can be critical, and multiomics may play an important role in the development of new therapies.
Multiomics refers to a biological analysis approach in which
multiple “omes” are analyzed together in a collaborative way to locate relevant
biomarkers and functional relationships. These “omes” include:
To perform their research, the St. Jude scientists examined
253 pediatric cancer patients by conducting whole genome
sequencing (WGS), whole
exome sequencing (WES), and RNA
sequencing of their tumors. They also looked at the WGS and WES of
non-cancerous tissues extracted from the same cancer patients.
“It is a whole lot of sequencing. I admit that,” Scott Newman, PhD,
Group Lead, Bioinformatics Analysis at St. Jude’s, told The
Scientist.
“With results available in a clinically relevant time frame, and pricing becoming increasingly comparable to the radiology and pathology tests, WGS is becoming more accessible to pediatric oncology patients,” said Scott Newman, PhD (above), Group Lead, Bioinformatics Analysis, at St. Jude’s, in an American Society of Human Genetics (ASHG) news release. (Photo copyright: ASHG.)
As a result of their three-platform testing, the researchers
discovered there was at least one finding for each patient that could be useful
in providing a diagnosis, revealing risks for individual patients, or
pinpointing which drugs may be most beneficial for a particular patient in
nearly 200 (79%) of the cases. Such findings are at the heart of precision
medicine.
The researchers also compared their sequencing results to
cancer panels that use next-generation
sequencing (NGS) to target specific genes or mutations relevant to a
certain cancer phenotype.
During this portion of the research, they discovered that the cancer panels
missed 11% to 16% of actionable genes relating to diagnosis, prognosis, and
treatment.
“This is either good news or bad news, depending on how you
look at it,” Newman said. “Personally, I am amazed at how well these panels do
and how well they have been designed. But, if you want to know every mutation
that you would probably want to report, you have to do comprehensive
sequencing.”
First Multi-Platform Genomic Sequencing Study
“To
our knowledge, this is the first clinical study where this comprehensive three-platform
genomic sequencing approach was offered prospectively to all pediatric oncology
patients,” said Kim Nichols, MD,
Director, Division of Cancer Predisposition at St. Jude’s, in a St.
Jude’s blog post.
The testing costs $8,600 per patient, but is considered worth
it to improve patient diagnosis, prognosis, and treatment for pediatric cancer
patients.
“Compared with the cost of many
other procedures that children with cancer undergo, the cost is likely
comparable, or even less—for example, compared with complex surgical procedures
or multiple radiology tests,” Nichols said.
In addition, the test results are available in less than 30
days, which makes them more valuable, as time can be a critical asset to cancer
management.
The scientists hope this type of three-platform genetic
testing can help guide care for pediatric cancer patients.
“Because
so few of the molecular lesions in pediatric cancer are targetable by specific
drugs, currently it is the diagnostic and prognostic insights provided by the
three-platform approach that appear most clinically impactful,” said Nichols.
“From a diagnostic perspective, tumors may look the same under a microscope,
but the identification of specific genetic changes can direct you to the correct
diagnosis, and therefore, the most appropriate therapy. From a prognostic
perspective, you will have different risk stratifications depending on results.”
The results of the research were presented at the 2018
annual meeting of the American Society of Human Genetics in San Diego last
October. The St. Jude’s researchers hope that this type of research can drive
wider adoption of WGS in the assessment of pediatric tumors to improve patient
outcomes. Pathologists and medical laboratory scientists will want to watch for
additional research findings as the team at St. Jude’s uses this approach on
more pediatric cancer patients.
Methods that target the causes of acidity could become part of precision medicine cancer treatments and therapies
Researchers at Massachusetts
Institute of Technology (MIT) have found that acidic environments enable
tumor cells to strengthen through protein production. And that when acidic surfaces
extend beyond a tumor’s interior, and come into contact with healthy tissue,
cancer can spread.
The results of their study will interest anatomic
pathologists who review tissue biopsies to diagnose cancer and help identify
the most effective therapies for cancer patients. Currently, there are no new clinical
laboratory tests under development based on MIT’s research.
The researchers published their findings in the journal Cancer Research. Their paper also
shared how tumor acidity can be identified and reversed.
“Our findings reinforce the view that tumor acidification is an important driver of aggressive tumor phenotypes, and it indicates that methods that target this acidity could be of value therapeutically,” noted Frank Gertler, PhD (above), in a news release. Gertler is an MIT Professor of Biology, a member of MIT’s Koch Institute for Integrative Cancer Research, and a Senior Author of the study. (Photo copyright: MIT News.)
Acidity is a Tumor Cell’s
Friend
Acidity results from lack of oxygen in tumors and enables
tumor cell growth. “Acidification of the microenvironment plays established roles
in tumor progression and provides a hostile milieu that advantages tumor cell
survival and growth compared to non-cancerous cells,” the researchers wrote in Cancer Research.
In their study, the MIT scientists sought to learn:
What areas of a tumor are actually acidic?
How does acidosis propel cells to
invade surrounding healthy tissues?
They used a nanotechnology platform
called pHLIP (pH Low
Insertion Peptide) to sense pH at the surface of cancer cells and then insert a
molecular probe into the cell membranes. “This brings nanomaterial to close
proximity of cellular membrane,” noted a research study
conducted at the University of Rhode Island by scientists who developed the
pHLIP technology.
Medical News Today reported that the MIT scientists
used pHLIP to map the acidity in human breast cancer tumors implanted in mice.
When it detected a cell in an acidic environment, pHLIP sent a small protein
molecule into the cell’s membrane. The scientists found that acidosis was not
confined to the oxygen-rich tumor core. It extended to the stroma, an important boundary
between healthy tissue and malignant tumor cells.
“We characterized the spatial characteristics of acidic
tumor microenvironments using pHLIP technology, and demonstrated that
tumor-stroma interfaces are acidic, and that cells within the acidic front are
invasive and proliferative,” the scientists wrote in Cancer Research.
What Stimulates
Acidity and How to Reverse It?
The MIT researchers sought the reasons, beyond hypoxia, for
high acidity in tumor tissue.
“There was a great deal of tumor tissue that did not have
any hallmarks of hypoxia that was quite clearly exposed to acidosis. We started
looking at that, and we realized hypoxia probably wouldn’t explain the majority
of regions of the tumor that were acidic,” Gertler pointed out in the MIT news
release.
So what did explain it? The researchers pointed to aerobic
glycolysis, a “condition in which glucose is converted to lactate in the presence
of oxygen,” according to an article published by StatPearls. “Cancer
stem cells (CSC) within a tumor are notorious for aerobic glycolysis. Thus,
extensive aerobic glycolysis has been indicative of aggressive cancer,” the
paper’s authors noted.
During their study, the MIT scientists found:
Cells at the tumor surface shifted to aerobic
glycolysis, “a type of metabolism that generates lactic acid, making way
for high acidity,” and
“Tumor acidosis gives rise to the expression of molecules
involved in cell invasion and migration. This reprogramming, which is an
intracellular response to a drop in extracellular pH, gives the cancer cells
the ability to survive under low-pH conditions and proliferate,” said Nazanin Rohani, PhD, former
postdoctoral researcher in the MIT Koch Institute for Integrative Cancer
Research, and Lead Author of the study, in the news release.
Could a Reduction in Acidity Reverse Tumor Growth?
In another experiment, the researchers fed sodium
bicarbonate (baking soda) to mice with breast or lung tumors. The tumors became
less acidic and metastatic.
“It adds to the sense that this pH dynamic is not permanent.
It’s reversible. I think that’s an important addition to an ongoing discussion
about the role of pH in tumor behavior,” said Ian Robey, PhD, in an
MITblog
post. Robey is a Research Assistant Professor, Department of Medicine
at the University of Arizona, and Full Investigator at the Arizona Cancer Center. He was not
involved in the MIT research.
Spreading the Word on
How Cancer Spreads
The MIT study is important—not only to anatomic pathologists—but
also to oncologists and cancer patients worldwide. Cancer is not simple to
diagnose and treat. The MIT study may provide important insights into targeting
cancer care and precision
medicine treatments.
This research could lead to a useful liquid biopsy test that would be a powerful new tool for clinical laboratories and anatomic pathologists
Cancer researchers have long sought the Holy Grail of
diagnostics—a single biomarker that can quickly detect cancer from blood or
biopsied tissue. Now, researchers in Australia may have found that treasure. And
the preliminary diagnostic test they have developed reportedly can return
results in just 10 minutes with 90% accuracy.
In a news release, University of Queensland researchers discussed identifying a “simple signature” that was common to all forms of cancer, but which would stand out among healthy cells. This development will be of interest to both surgical pathologists and clinical laboratory managers. Many researchers looking for cancer markers in blood are using the term “liquid biopsies” to describe assays they hope to develop which would be less invasive than a tissue biopsy.
“This unique nano-scaled DNA signature appeared in every type of breast cancer we examined, and in other forms of cancer including prostate, colorectal, and lymphoma,” said Abu Sina, PhD, Postdoctoral Research Fellow at the Australian Institute for Bioengineering and Nanotechnology (AIBN), University of Queensland (UQ), in the news release.
“We designed a simple test using gold nanoparticles that
instantly change color to determine if the three-dimensional nanostructures of cancer
DNA are present,’ said Matt
Trau, PhD, Professor of Chemistry at the University of Queensland, and
Deputy Director and Co-Founder of UQ’s AIBN, in the news release.
The team’s test is preliminary, and more research is needed before
it will be ready for Australia’s histopathology laboratories (anatomic
pathology labs in the US). Still, UQ’s research is the latest example of how
increased knowledge of DNA is making it possible for researchers to identify
new biomarkers for cancer and other diseases.
“We certainly don’t know yet whether it’s the holy grail for
all cancer diagnostics, but it looks really interesting as an incredibly simple
universal marker of cancer, and as an accessible and inexpensive technology
that doesn’t require complicated lab-based equipment like DNA sequencing,” Trau
added.
The UQ researchers published their study in the journal Nature Communications. In it, they noted that “Epigenetic reprogramming in cancer genomes creates a distinct methylation landscape encompassing clustered methylation at regulatory regions separated by large intergenic tracks of hypomethylated regions. This methylation landscape that we referred to as ‘Methylscape’ is displayed by most cancer types, thus may serve as a universal cancer biomarker.”
While methyl patterning is not new, the UQ researchers say they were the first to note the effects of methyl pattern in a particular solution—water. With the aid of transmission electron microscopy, the scientists saw DNA fragments in three-dimensional structures in the water. But they did not observe the signature in normal tissues in water.
“To date, most research has focused on the biological consequences of DNA Methylscape changes, whereas its impact on DNA physicochemical properties remains unexplored,” UQ scientists Matt Trau, PhD (left), Abu Sina, PhD (center), and Laura Carrascosa (right), wrote in their study. “We exploit these Methylscape differences to develop simple, highly sensitive, and selective electrochemical or colorimetric one-step assays for the detection of cancer.” (Photo copyright: University of Queensland.)
Their test averaged 90% accuracy during the testing of 200
human cancer samples. Furthermore, the researchers found the DNA structure to
be the same in breast, prostate, and bowel cancers, as well as lymphomas, noted
The Conversation.
“We find that DNA polymeric
behavior is strongly affected by differential patterning of methylcytosine
leading to fundamental differences in DNA solvation and DNA-gold affinity
between cancerous and normal genomes,” the researchers wrote in NatureCommunications.“We exploit
these methylscape differences to develop simple, highly sensitive, and
selective electrochemical or one-step assays for detection of cancer.”
Next Steps for the
“Gold Test”
“This approach represents an exciting step forward in
detecting tumor DNA in blood samples and opens up the possibility of a generalized
blood-based test to detect cancer, Ged Brady, PhD, Cancer Research UK
Manchester Institute, told The
Oxford Scientist. “Further clinical studies are required to evaluate
the full clinic potential of the method.”
Researchers said the next step is a larger clinical study to
explore just how fast cancer can be detected. They expressed interest in
finding different cancers in body fluids and at various stages. Another opportunity
they envision is to use the cancer assay with a mobile device.
DiCarlo told USA Today
that such a mobile test could be helpful to clinicians needing fast answers for
people in rural areas. However, he’s also concerned about false positives. “You
don’t expect all tumors to have the same methylation pattern because there’s so
many different ways that cancer can develop,” he told USA Today. “There
are some pieces that don’t exactly align logically.”
The UQ researchers have produced an intriguing study that differs
from other liquid biopsy papers covered by Dark Daily. While their test may need to be used in combination with other
diagnostic tests—MRI, mammography, etc.—it has the potential to one day be used
by clinical laboratories to quickly reveal diverse types of cancers.
Expanded ‘Cancer Gene Census’ is expected to accelerate development of new therapeutics and biomarker-based personalized medicine diagnostic tests for disease; could be useful for anatomic pathologists
Oncology is one of the fastest-developing fields in precision medicine and use of DNA-based diagnostics. Surgical pathologists are helping many cancer patients benefit from the use of a companion genetic test that shows their tumors are likely to respond to a specific drug or therapy. Consistent with that work, researchers in the United Kingdom (UK) have now produced the first comprehensive summary of all genes known to be strongly associated with cancer in humans.
The expansion of the “Cancer Gene Census” is noteworthy for anatomic pathologists who should expect to see the information increase the understanding of cancer causes and accelerate the development of new therapeutics and biomarker-based molecular diagnostics.
In this latest Cancer Gene Census, researchers from the Wellcome Sanger Institute (WSI) used CRISPR gene editing systems to produce an expanded catalog of 719 cancer-driving genes in humans.
According to a review article on the project published in Nature Reviews Cancer, “The recent expansion includes functional and mechanistic descriptions of how each gene contributes to disease generation in terms of the key cancer hallmarks and the impact of mutations on gene and protein function.”
The 2018 Cancer Gene Census from the Wellcome Sanger Institute in the United Kingdom summarizes 719 genes suspected of causing cancer in humans and describes how they function across all forms of the disease. (Photo copyright: Wellcome Sanger Institute.)
The Catalogue of Somatic Mutations in Cancer (COSMIC) provided the foundation for the WSI’s research. It involved manually condensing almost 2,000 research papers to develop evidence for a gene’s role in cancer.
While the COSMIC database characterizes more than 1,500
forms of human cancer and types of mutations, the U.K.’s Cancer Gene Census
goes further and “describes which genes are fundamentally involved and
describes how these genes cause disease,” a Wellcome Sanger Institute news
release states.
“For the first time ever, functional changes to these genes
are summarized in terms of the 10 cancer hallmarks—biological processes that
drive cancer,” the statement explains. “Mutations in some genes lead to errors
in repairing DNA, whereas mutations in other genes can suppress the immune
system or promote tumor invasion or spreading. Across the 700 genes in the
Cancer Gene Census, many have two or more different ways of causing cancer.”
Zbyslaw Sondka,
PhD, lead author on the WSI project, believes their study has provided
scientists with much needed new insights. “Scientific literature is very compartmentalized.
With the Cancer Gene Census, we’re breaking down all those compartments and
putting everything together to reveal the full complexity of cancer genetics,” he
noted in a WSI
article.
“This is the broadest and most detailed review of human
cancer genes and their functions ever created and will be continually updated
and expanded to keep it at the forefront of cancer genetics research,” Sondka
added.
Making Precision
Medicine More Precise
An understanding of the roles played by different genes in
various cancers is key to enabling researchers to develop drugs that will be
effective against individual cancers.
“The combination of the Cancer Gene Census with COSMIC will
enable researchers to investigate individual mutations and try to find good
targets for anti-cancer drugs based on the actual processes involved,” Simon Forbes, PhD,
Senior Author of the Cancer Gene Census paper and Director of COSMIC at the
Wellcome Sanger Institute, stated in the WSI news release.
Simon Forbes, PhD (above), Director of COSMIC at the Wellcome Sanger Institute and Senior Author of the Cancer Gene Census paper, believes the institute’s latest Cancer Gene Census, which catalogs 719 cancer-causing genes, will “help make precision medicine even more precise” by allowing “biologists and pharmaceutical scientists to see patterns and target particular pathways with anti-cancer drugs, not solely single genes.” (Photo copyright: Wellcome Sanger Institute.)
The path to precision medicine cancer treatments was further boosted this month when Wellcome Sanger Institute researchers, in partnership with the Open Targets Platform, announced a new system to prioritize and rank 600 drug targets that show the most promise for development into cancer treatments, noted a WSI statement.
The WSI/Open Targets team published its research in the international science journal Nature.
CRISPR-Cas9 and
Personalized Medicine
This latest research springboards off one of the largest CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)-Cas9 screens of cancer genes to date. Researchers used CRISPR gene-editing systems to disrupt every gene within 30 different types of cancers and locate several thousand key genes essential for cancer’s survival. They then identified 600 genes that potentially could be used in personalized medicine treatments.
“The results bring researchers one step closer to producing
the Cancer
Dependency Map, a detailed rulebook of precision cancer treatments to help
more patients receive effective therapies,” the Wellcome Sanger Institute statement
notes.
Anatomic pathologists and clinical laboratories should note
the speed at which development of useful biomarkers for diagnosing cancer is
progressing. All labs will want to be prepared to capitalize on those
advancements through the lab testing services they offer in their medical laboratories.
For blood brothers Quest and LabCorp this is good news, since the two medical laboratory companies perform most of the testing for the biggest DTC genetic test developers
Should clinical laboratories be concerned about direct-to-consumer (DTC) genetic tests? Despite alerts from healthcare organizations about the accuracy of DTC genetic testing—as well as calls from privacy organizations to give DTC customers more control over the use of their genetic data—millions of people have already taken DTC tests to learn about their genetic ancestry. And millions more are expected to send samples of their saliva to commercial DTC companies in the near future.
This growing demand for at-home DTC tests does not appear to be subsiding. And since most of the genetic testing is completed by the two largest lab companies—Quest Diagnostics (NYSE:DGX) and Laboratory Corporation of America (NYSE:LH)—other medical laboratories have yet to find their niche in the DTC industry.
Another factor is the recent FDA authorization allowing DTC company 23andme to report the results of its pharmacogenetic (PGx) test directly to customers without requiring a doctor’s order. For these reasons, this trend looks to be gaining momentum and support from federal governing organizations.
Dark Daily has
reported on DTC genetic
testing for many years. According to MIT’s Technology Review, 26 million people—roughly
8% of the US population—have already taken at-home DNA tests. And that number
is expected to balloon to more than 100 million in the next 24 months!
“The genetic genie is out of the bottle. And it’s not going
back,” Technology Review reports.
The vast majority of the genetic information gathered goes into the databases of just four companies, with the top two—Ancestry and 23andMe—leading by a wide margin. The other two major players are FamilyTreeDNA and MyHeritage, however, Ancestry and 23andMe have heavily invested in online and television advertising, which is paying off.
In an op-ed response to a NYT editorial that warned readers to avoid 23andMe’s DTC genetic testing, 23andMe CEO and co-founder Anne Wojcicki (above) wrote, “We believe that consumers can learn about genetic information without the help of a medical professional, and we have the data to support that claim.” The FDA agreed and in February approved 23andMe to report pharmacogenetic test results directly to its customers. How this will play out for clinical laboratories remains to be seen. (Photo copyright: Inc.com.)
As more people add their data to a given database, the likelihood they will find connections within that database increases. This is called the Network Effect (aka, demand-side economies of scale) and social media platforms grow in a similar manner. Because Ancestry and 23andMe have massive databases, they have more information and can make more connections for their customers. This has made it increasingly difficult for other companies to compete.
Quest Diagnostics and LabCorp do the actual gene sequencing
for the top players in the DTC genetic testing sector. The expected wave of new
DTC genetic test costumers (74 million in the next 24 months) will certainly
have a beneficial revenue impact on those two lab companies.
Why the Explosion in Genetic
Testing by Consumers?
In 2013, just over 100,000 people took tests to have their
DNA analyzed, mostly using Ancestry’s test, as Dark Daily reported. By 2017, that
number had risen to around 12 million, and though Ancestry still had the
majority market share, 23andMe was clearly becoming a force in the industry,
noted Technology Review.
And now there are several health-related reasons as well. For
example, the study of pharmacogenetics has led clinicians to understand that
certain genes reveal how our bodies process some medications. The FDA’s clearance
allows 23andMe to directly inform customers about “genetic variants that may be
associated with a patient’s ability to metabolize some medications to help
inform discussions with a healthcare provider. The FDA is authorizing the test
to detect 33 variants for multiple genes,” the FDA’s press
release noted.
Controversy Over DTC
Genetic Tests
The use of DTC genetic tests for healthcare purposes is not without scrutiny by regulatory agencies. The FDA removed 23andMe’s original health test from the market in 2013. According to Technology Review, the FDA’s letter was “one of the angriest ever sent to a private company” and said “that the company’s gene predictions were inaccurate and dangerous for those who might not fully understand the results.”
23andMe continues to refine its DTC tests. However, the debate continues. In February of this year, the New York Times (NYT) editorial board published an op-ed warning consumers to be wary of health tests offered by 23andMe, saying the tests “look for only a handful of [genetic] errors that may or may not elevate your risk of developing the disease in question. And they don’t factor into their final analysis other information, like family history.”
Anne Wojcicki, CEO and co-founder of 23andMe, responded with her own op-ed to the NYT, titled, “23andMe Responds: Empowering Consumers.” In her letter, Wojcicki contends that people should be empowered to take control of their own health, and that 23andMe allows them to do just that. “While 23andMe is not a diagnostic test for individuals with a strong family history of disease, it is a powerful and accurate screening tool that allows people to learn about themselves and some for the most common clinically useful genetic conditions,” she wrote.
Nevertheless, privacy concerns remain:
Who owns the results, the company or the
consumer?
Who can access them?
What happens to them a year or five years after
the test is taken?
When they are sold or used, are consumers
informed?
Even as experts question the accuracy of DTC genetic testing
in a healthcare context, and privacy concerns continue to grow, more people
each year are ordering the tests. With predictions of 74 million more tests
expected in the next 24 months, it’s certain that the medical laboratories that
process those tests will benefit.
