Lab Soft News

New Definition for DTC Lab Testing Prompted by EverlyWell Business Model

A recent article in Dark Daily convinced me that we need a new definition for direct-to-consumer (DTC) lab testing which has also been called direct-access-testing (DAT) (see: Direct-to-Consumer Lab Test Start-Up EverlyWell Puts Clinical Laboratory Tests on Shelves at CVS and Target). Below is an excerpt from the article:

....Julia Taylor Cheek, Founder and CEO of EverlyWell, a well-financed digital health company based in Austin—hopes to build a... disruptive business in the clinical laboratory industry....Cheek is talking about the same primary business strategy of letting consumers purchase their own lab tests....The company has...expanded its product line to offer 35 panels, including first-to-market tests in fertility, vitamins, peri- and post-menopause, and high-risk HPV. In addition, EverlyWell has launched an end-to-end care model for consumers, now offering an independent physician consult and prescription, if appropriate, for select STDs and Lyme Disease testing. All of this is included in an upfront price before purchase....EverlyWell offers home health test kits, priced from $49 to $400 that people can order without a doctor’s prescription and pay for online. Users take their samples (saliva, urine, or a pinprick of blood) with provided lancets and cotton swabs....EverlyWell’s top selling tests are: Food sensitivity-$159; Thyroid function-$159; Metabolism-$89; and Vitamin D deficiency-$99....A physician reviews the test results...[and] reports on test results are electronically accessible through smartphone apps and online web dashboards. 

My prior definition for DTC/DAT lab testing (see: Reinventing Direct Access Testing), and the one generally accepted in the lab industry, has been that blood is drawn in a patient service center and the test is then performed at an accredited reference laboratory. Such testing has been permissible only in states where it was legal for a consumer to order them. The term has usually not been applied to home testing by diabetics using a glucometer (see: Best Glucometers). Neither was it applied to urine tests for pregnancy interpreted at home by the consumer (see: BFP Test Strip Little Bundle). Ditto for HIV testing using oral fluid applied to a test strip (see: Home Tests).

The article above about EverlyWell has prodded me to propose a tentative, new definition for DAT testing: any laboratory test purchased by a consumer and requiring specimens such as blood or urine with the interpretation of the test by the consumer or by an accredited laboratory based on the analysis of the sample submitted to the lab. I think that such an expanded definition for DTC testing will serve us well in the future as new technology enables more sophisticated home testing including new ways to interpret test strip color changes (see: Dipstick Technology Approved by FDA for Urinalysis at Home).

Lab Specimen Delivery to Clinical Labs by Drone May Soon Become Reality

It seems to me that delivery of biologic specimens from physician offices to clinical labs would be an ideal test for drones and this seems to be happening according to the Dark Report and Dark Daily (see: UPS and WakeMed Now Use Aerial Drone for Daily Transport of Clinical Laboratory Specimens). Below are some of the details:

In April,...The Dark Report ...[reported that] WakeMed Health and Hospitals...[used] a quadcopter drone to deliver patients’ medical laboratory specimens. The drone flew roundtrip between a complex of physicians’ offices on WakeMed’s Raleigh, N.C. campus and the central clinical laboratory. The flight was the culmination of a multi-year drone-delivery pilot program during which a team at WakeMed collaborated with the United Parcel Service (UPS), the Federal Aviation Commission (FAA), and the North Carolina Department of Transportation (NCDOT)....In April, the FAA issued an Air Carrier Certification to Wing Aviation LLC, an air delivery developer and subsidiary of Alphabet.....The FAA certification restricts drone deliveries to daylight hours only with no flying in the rain. The devices are allowed to fly over people but cannot hover above them, nor can they carry any hazardous materials. The company plans to launch a trial delivery service later this year in the Blacksburg and Christiansburg areas of Southwest Virginia. Wing hopes to add other markets to its drone delivery service in the future.... Prior to using drones for clinical laboratory specimen deliveries, WakeMed relied on courier cars and trucks to transport specimens within the campus. The ground delivery service could take up to an hour to complete. By comparison, drones can make the same delivery in minutes, ensuring lab specimens remain viable, and getting test results to patients faster. 

There are several reasons that biologic specimen deliveries to clinical labs would seem to be ideal cargo for drones: (1) the specimens are relatively light; (2) rapid delivery is required because the specimens are biologic material and subject to degradation; (3) fast turn-around-time is expected for lab test results. Here are more details about drone delivery from an article focusing on Amazon's plans (see: Here’s Amazon’s new transforming Prime Air delivery drone). Below is an excerpt from it:

...[Amazon] accompanied the announcement of the new drone with a test flight video, showing how the craft transforms in midair. Amazon claims its goal for the finished Prime Air service is create “fully electric drones that can fly up to 15 miles and deliver packages under five pounds to customers in less than 30 minutes.” This may sound like a small payload, but Amazon says 75 to 90 percent of purchased items are under that weight limit.

Although some of the news about package delivery by drones has focused on rural services, the 15 mile distance limit would seem to restrict the service to cities and suburbs. The initial five pound weigh limit would still be suitable for most lab specimens.

Liquid Biopsy for Prostate Cancer Uses Urine as the Specimen

There have been lots of new developments in the world of the liquid biopsy and I have blogged about some of the most recent (see, for example: Grail Picks Specific Method for Liquid Biopsy Clinical Trials; Study Concludes That Liquid Biopsies Can Help Guide Cancer Treatment). However a recent article caught my attention because it involved urine as the required specimen rather than blood and also involved exosomes which are extracellular vesicles (EVs) produced in the endosomal compartment of most eukaryotic cells as well as cancer cells (see: Bio-Techne nets FDA breakthrough ticket in prostate cancer liquid biopsy). Exosomes contain various molecular constituents of their cell of origin including proteins and RNA. Below is an excerpt from the article: 

Bio-Techne’s urine test, designed to track down the exosomes and genomic markers released from prostate cancer cells, has received a breakthrough device designation from the FDA for ruling out unnecessary tissue biopsies. The company describes its ExoDx Prostate IntelliScore test as the first liquid biopsy to receive breakthrough status for targeting exosomes, which are the small capsules released by cells carrying molecular cargo related to cell waste or communication and also bear RNA signatures of their home cell. The test aims to spare patients an unneeded tissue biopsy following the results of a prostate-specific antigen blood test, or PSA reading—which can give false positive results or mistake relatively small, benign tumors for something more, leading to overdiagnosis and overtreatment, according to the National Cancer Institute. And biopsies alone can have serious side effects, including infection risks, diminished sexual function, incontinence, pain and hospitalization.

Here is additional information about the ExoDx Prostate IntelliScore from the company web site:

How Does ExoDx Prostate(IntelliScore) Work? Patients submit a simple, non-digital rectal exam (DRE) urine sample. ExoDx Prostate (IntelliScore) analyzes the urine for three biomarkers on exosomal RNA that are expressed in men with high-grade prostate cancer. Using a proprietary algorithm that integrates the three-gene signature, the test assigns an individual risk score for patients that predicts the presence of high-grade (Gleason Score ≥ 7) prostate cancer. ExoDx Prostate (IntelliScore) is being designed to enable physicians, along with prostate-specific antigen (PSA) test and other standard of care factors (including age, race, and family history), to more accurately predict whether a patient presenting for an initial biopsy does not have high-grade prostate cancer and, thus, could potentially avoid an initial biopsy and, instead, continue to be monitored.

This is an interesting new chapter in the liquid biopsy story. Obviously, analysis of urine can be highly relevant for the diagnosis of malignant lesions of the prostate. One wonders whether the analysis of exosomes in serum from other cancerous lesion will have diagnostic relevance in the future.

Why Hospital Labs Should Offer Direct Access Testing to Consumers

In a recent article in Dark Daily, the point is made that a high percentage of millennials do not have a relationship with a primary care physician (PCP) (see: JAMA Study Shows American’s with Primary Care Physicians Receive More High-Value Care, Even as Millennials Reject Traditional Healthcare Settings). The article goes on to offer a list of changes that hospital clinical labs could pursue in order to capture more business from millennials and other healthcare consumers and they are listed below:

Dark Daily advises clinical laboratory leaders to consider changes in how they do business to better serve busy consumers. Here are a few ways to appeal to people of all ages who seek value, fast service, and connectivity:

*  Offer walk-in testing with no appointments.

*  Create easy-to-navigate online scheduling tools.

*  Enable patients to request tests without doctors’ orders as the lab’s market allows.

*  Make results quickly available and in easy-to-understand reports.

*  Post test results online for patients to securely access in patient portals.

*  Make it easy to interact with personnel or receive information through lab websites.

*  Collaborate with telehealth providers.

*  Post prices of the most commonly ordered tests.

*  Use social media to promote the lab and respond to online reviews.

This is a very good list and I strongly endorse all of these ways for lab leaders to engage with a greater numbers of consumers but want to emphasize change #3: offering direct access testing (DAT) but only when legal in the specific state. I have posted number of notes about DAT over the years (see, for example: Reinventing Direct Access Testing (DAT); Direct Access Testing; One Facet of the Decentralization of Healthcare Delivery; An Estimate of the Size of the Direct Access Testing (DAT) Market). At present, it's is legal in about 29 states and the District of Columbia  but this number will surely grow because of the power of consumerism (see: Why Healthcare Experts Critical of Direct Access Testing Advise Clinical Laboratories to Take Precautions).

I  want to emphasize here how many of the steps listed above require IT support. Perusing the list, the following fall into this category: online scheduling tools, patient portals, on-line test results, telemedicine, email interactions with consumers, and social media. Every lab thus needs a strong IT team. However, I want to make one additional point here. The character of pathology and lab testing is changing rapidly due to the decline of inpatient admissions, the rise of consumerism in healthcare, and, as noted above, movement away from the traditional physician and hospital-centric healthcare model. The gist of this Dark Daily article is that laboratory leaders need to establish a new and more direct relationship with consumers. One very effective way for this to happen would be to offer DAT services. This would be a radical change from past practices but radical change may soon be a necessary prescription in the healthcare industry.

Study Concludes That Liquid Biopsies Can Help Guide Cancer Treatment

It now seems likely that liquid biopsies will have a well-defined and important role in the diagnosis of cancer and the screening of treated cancer patients for recurrences. The value of the procedure continues to improve due to new scientific discoveries (see: Scientific Breakthrough on the Correlation of Liquid Biopsies with Cancer Type) and a recent article was the most positive of any that I have read about the value of liquid biopsies (see: Liquid Biopsy Is Effective at Guiding Treatment of Lung Cancer, Study Finds). Below is an excerpt from it:

...[T]wo years ago, Dr. Li and his colleagues [at Memorial Sloan Kettering] began a prospective clinical study to evaluate whether a liquid biopsy test could help guide treatment decisions for people with lung cancer....The authors conclude that liquid biopsy–guided treatment is “feasible, rapid, and useful.”....[Patients in the study] all had advanced-stage non-small cell lung cancer that either had no known mutation that could be targeted with a drug or had stopped responding to a targeted therapy. Their cancers had spread beyond the primary location. Each patient had the liquid biopsy test performed on a blood sample. About half of the patients (106) also had their tumor tissue genetically sequenced by MSK’s DNA-sequencing platform, called MSK-IMPACT, [a targeted test for mutations]. Among the most important benefits of the liquid biopsy was the quick turnaround time..... In the study, just over 45% of the patients were found by liquid biopsy to have a mutation that could be targeted by an approved or investigational drug. About 22% of the patients (46 people) received one such drug, and nearly all of them experienced a benefit — namely, a decrease in the size of their tumors.

The particular liquid biopsy test used in this study is made by Resolution Bioscience, a biotech company.... It looks for mutations in 21 genes that are known to be involved in non-small cell lung cancer. By comparing the results of the liquid biopsy to those of tumor tissue, the team determined that the overall concordance rate between the two approaches was 56.6%. This means that for a little more than half of the people, both tests identified at least one mutation in common. What cheered the team more was that when they looked just at people who tested positive for a cancer mutation on the liquid biopsy, 89.6% had that same mutation also identified by the test of tumor tissue. Finally, when the investigators looked at only patients with driver mutations found on the liquid biopsy — those that matter most in terms of treatment — the rate of agreement between the two tests was 96.1%.

As I reflect on the advances that have been made made with regard to liquid biopsies, I recall that there has been speculation for decades that surgical pathology could be replaced some day by some sort of "biochemical analysis" of malignant tissue. My personal understanding of how this would work was very vague but involved the idea that the malignant tumors were biochemically different in some ways from normal tissue. It now turns out that the "biochemical process" underlying liquid biopsies is the genomic analysis of cell-free circulating tumor DNA which has known differences from normal DNA.

The major advantage that a liquid biopsy holds over normal histopathological examination of paraffin-embedded tissue by a pathologist is the possible avoidance, one day, of the need for a biopsy. Tumors will often be located in inaccessible places which makes the liquid biopsy, if reliable, very attractive. The question then arises as to what extent liquid biopsies will replace physical biopsies in the future. It's premature to speculate about such a question. We don't have answers yet as to whether a cancer in its early stages releases cells into the circulation and whether cell-free DNA from such early lesions can be detected. 

Scientific Breakthrough on the Correlation of Liquid Biopsies with Cancer Type

I have blogged extensively about the progress that is being made with liquid biopsy research (see, for example: Grail Picks Specific Method for Liquid Biopsy Clinical Trials). The test is based on the correlation that can be made between cell-free DNA (cfDNA) fragments circulating in the blood with a malignant tumor that may be growing in the patient. A recent article addressed some new science for assessing fragments of DNA in the circulation based on a machine learning model (see: Genome-wide cell-free DNA fragmentation in patients with cancer). Below is an excerpt from the summary of the article:

Cell-free DNA in the blood provides a non-invasive diagnostic avenue for patients with cancer. However, characteristics of the origins and molecular features of cell-free DNA are poorly understood. Here we developed an approach to evaluate fragmentation patterns of cell-free DNA across the genome, and found that profiles of healthy individuals reflected nucleosomal patterns of white blood cells, whereas patients with cancer had altered fragmentation profiles....A machine learning model that incorporated genome-wide fragmentation features had sensitivities of detection ranging from 57% to more than 99% among the seven cancer types at 98% specificity, with an overall area under the curve value of 0.94. Fragmentation profiles could be used to identify the tissue of origin of the cancers to a limited number of sites in 75% of cases. Combining our approach with mutation-based cell-free DNA analyses detected 91% of patients with cancer. The results of these analyses highlight important properties of cell-free DNA and provide a proof-of-principle approach for the screening, early detection and monitoring of human cancer.

I first blogged about liquid biopsies in October, 2010 (see: Does the New Term "Liquid Biopsy" Make Any Sense?), complaining that I did not like the term. It has persisted so we are stuck with it. In those early years, the test involved isolating the very rare cancer cells in the peripheral blood and then genotyping them. There was major questions about this technology including questions like the extent to which malignant neoplasms shed cells into the peripheral blood stream. The science and technology then evolved over the years to the far easier task of isolating cell-free DNA (cfDNA) from the blood stream.

For patients with known cancers subject to recurrence, the correlation between circulating cfDNA and a known, preexisting primary tumor will be relatively obvious. However, such knowledge does not exist if and when a liquid biopsy is used for cancer screening in the general population. Such screening will probably be the norm in several years for patients with known high cancer risk such as chronic smokers. The ability to analyze and make sense of circulating DNA fragments, an obviously daunting task, has now apparently been solved using machine learning technology. Very interesting is the point made above that DNA fragments in normal individuals were found to be related to the nucleosomal patterns of white blood cells.

Grail Picks Specific Method for Liquid Biopsy Clinical Trials

I have blogged about the liquid biopsy for about eight years (see, for example, Rapid Adoption of the Term "Liquid Biopsy" on the Web; Continuing Discussion about the "Liquid Biopsy"; "Liquid Biopsy" Used to Refer to Detection of Any Serum Cancer DNA). Initially, the test involved the isolation of circulating cancer cells from a blood sample, a daunting task due to their rarity, and the subsequent analysis of the DNA of them. Liquid biopsy research has evolved since then to the collection and analysis of cell-free circulating DNA and RNA. A recent article discussed how Grail, the apparent leader in the commercialization of the technology, has selected what it deems to be the best method for cancer detection in the blood (see: Grail, the liquid biopsy startup, picks an approach for its cancer test). Below is an excerpt from the article:

Grail, the company that has raised $1.6 billion to develop a blood test to detect cancer early, announced Monday that it has settled on a method for its test and enrolled 115,000 patients in two large clinical trials. A third study, with 50,000 patients, has already begun. The San Francisco-based startup, spun out of DNA sequencing giant Illumina in 2016, previously presented data on three different approaches to detect cancer using DNA circulating in the blood. One used DNA sequencing to look at specific regions of genes; a second used the technology to sequence the entire genomes of cells floating in patients’ bloodstreams; and a third looked at methylation, an epigenetic change across the whole genome. Grail said in a statement that it has settled on the third method, which uses methylation to detect cancer and identify where in the body it started.....The company also said that it had received a special “breakthrough device” designation from the Food and Drug Administration that could expedite the test’s eventual review. 

Here's a paragraph from the Grail landing page about how to analyze cancer signals in blood:

An increasing body of evidence suggests tumors release cell-free nucleic acids (cfNAs) into the bloodstream. cfNAs are small fragments of DNA and RNA, and reflect the genomic features of the tumor from which they originated. cfNAs are thought to be a direct measure of cancer and can be detectable in the bloodstream of people with cancer, potentially even before symptoms present.

All of this seems promising. Grail certainly has generous funding and is enrolling large numbers of patients in its clinical trials. However, I suspect that, even with its “breakthrough device” classification by the FDA, we won't have good answers about this technology for several years. Here's a brief description of the science of DNA methylation patterns (see: DNA Methylation and Its Basic Function):

In the mammalian genome, DNA methylation is an epigenetic mechanism involving the transfer of a methyl group onto the C5 position of the cytosine to form 5-methylcytosine. DNA methylation regulates gene expression by recruiting proteins involved in gene repression or by inhibiting the binding of transcription factor(s) to DNA. During development, the pattern of DNA methylation in the genome changes as a result of a dynamic process involving both de novo DNA methylation and demethylation. As a consequence, differentiated cells develop a stable and unique DNA methylation pattern that regulates tissue-specific gene transcription.

Sonic Use Lab Data and Analytics to Provide Important Information to Patients

Sonic Healthcare USA is the world’s third largest pathology/laboratory medicine company with operations in eight countries. A recent article discussed how the company is now using lab test data generated in its labs for predictive analytics focusing on patients with neglected diabetes. The various laboratories then directly contacted these patients, urging them to seek medical treatment  (see: Sonic Healthcare Uses Test Data to Create Shared Savings Opportunities for Clinical Laboratory and Providers). These actions, in turn, reduced medical costs by this early intervention. Below is an excerpt from the article:

Using integrated financial and clinical analytics, Sonic is developing technologies to build clinical decision support tools for its provider and health plan clients. The providers and health plans use those tools to engage patients and help them manage their health....Sonic uses lab test results and financial data to show providers how some low-cost patients over time can become high-cost patients....Sonic [then] uses lab test data to help physicians identify low-cost patients who may need certain interventions before they become high-cost patients. Providers have opportunities to intervene with patients who have renal failure, congestive heart failure, ischemic heart disease, diabetes, and other conditions....

Over several years, Sonic has worked with one client provider group to identify patients who would benefit the most from interventions to prevent their healthcare costs from rising sharply....Sonic found that about two-thirds of high-cost patients were in the low-cost group just one year earlier.....[T]he reason they were low cost the year before was not because they were healthy. Instead, it was because they did not engage with the healthcare system for their chronic disease management.....Sonic used its iMorpheus data analytics system to show that 26.5% of the low-cost patients had diabetes, but that they had not seen their physician in the previous 12 months....[T]he company developed an automated interactive voice response system to call the patients. Sonic recorded the patients’ physicians and then had the system place the calls. Of the patients who received the calls, 44% responded and visited their physicians.

I have posted a number of previous notes about predictive/diagnostic analytics (see, for example: Diagnostic and Predictive Analytics and Their Possible Link to the Future of the LIS; Three Examples of Predictive Analytics in Clinical Practice). However, I was pleasantly surprised to discover via the cited article above that a global laboratory company had both developed a proprietary data analytics system, iMorpheus, and was then using the system to predict/diagnose disease. Ultimately, the patients were alerted about this finding with an automated telephone system using their physician's voice.

All of this is both admirable and highly unusual. Although clinical labs enable clinicians to make myriad diagnoses with lab test results, they seldom take a proactive role in predicting and diagnosing disease in patients. Sonic's program provides early insight into the potential value of  various types of analytics software installed in the labs. In a recent note, I also discussed how analytics will play a critical role in the future for the professional career of pathology informaticians (see: The Future for Pathology Informaticians Inexorably Linked to Analytics). This fascinating news from Sonic reinforces this same idea. 

Dipstick Technology Approved by FDA for Urinalysis at Home

I seem to have lost track of advancements in dipstick technology understanding that it is well established in such areas as pregnancy testing. Home glucose testing for diabetics, of course, is growing increasingly sophisticated with the test strips being read by a meter. A recent article indicated that this meter technology can be replaced by the camera in a smartphone for recording and analyzing dipstick color changes when screening for kidney disease (see: FDA approves smartphone camera–based dipstick product). Below is an excerpt from the article:

Healthy.io, based in Tel Aviv, Israel, has obtained U.S. Food and Drug Administration (FDA) marketing clearance for its first digital dipstick kit offering. The Dip.io is advertised on the company’s website as having the accuracy of “the standard lab-based urinalysis analyzer.” ....The urinalysis dipstick includes 10 determinations, including indicators for possible CKD, on the strip....Dip.io home testing for protein, glucose, and blood in urine can be enormously helpful for patients. It is also a welcome tool helping improve diagnosis and awareness of chronic kidney disease....The dipstick uses “computer vision algorithms” and a “unique calibration method” to ensure accurate reading and interpretation of results, accounting for the many different smartphone cameras available and “infinite lighting conditions,” according to the company’s website. A photo of the dipstick with its color changes as test results will then be automatically sent to a patient’s electronic medical record so a clinical professional can follow up.

Given that there is now at least one way for consumers to accurately image and interpret dip stick color changes without an expensive and specialized meter, look for consumer-oriented dip stick technology to rapidly increase. Ultimately, I think that there will be some sort of monthly health monitoring regimen available to consumers with perhaps multiple types of dipsticks and also home-based mini-analyzers. The results, including the dip stick images, will be uploaded to the consumer's health record in the cloud. There will be a distinction made between consumer-generated test results and those generated by healthcare professionals. Computerized analytics will surveil both the professional and consumer portions of the e-health record and generate a warning when significant results are entered. Meanwhile, here are some interesting results about the incidence of chronic kidney disease in the U.S. (see: Kidney Disease Statistics for the United States):

• The overall prevalence of CKD [chronic kidney disease] in the general population is approximately 14 percent.
• High blood pressure and diabetes are the main causes of CKD. Almost half of individuals with CKD also have diabetes and/or self-reported cardiovascular disease (CVD).
• More than 661,000 Americans have kidney failure. Of these, 468,000 individuals are on dialysis, and roughly 193,000 live with a functioning kidney transplant.

Questions about the Interpretation of BRCA Testing by 23andMe

Lab testing for the genes that predispose a person to develop cancer is highly complex, both to preform and interpret. For example and relating to BRCA, I have blogged about some of the pitfalls of such testing (see: BRCA Exchange Available on the Web; Understanding BRCA Variants). Here's a quote from this note discussing some of the complexities that are encountered:

It's not known among some healthcare consumers that there are a host of BRCA variants other than the standard ones. Normal BRCA testing looks for three specific genetic variants that are linked to hereditary cancers. Two of these variants — 185delAG and 5382insC — are in the BRCA1 gene. One variant — called 6174delT — is in the BRCA2 gene. A patient may test positive for a variant other than these common ones and it may not be clear under such circumstances what treatment to offer to the patient.

A recent article in the New York Times warns consumers about the fact that the 23andMe BRCA testing may be misleading (see: Don’t Count on 23andMe to Detect Most Breast Cancer Risks, Study Warns ). Below is an excerpt from the article: 

In 2010, Dr. Pamela Munster mailed her saliva to 23andMe, a relatively new DNA testing company, and later opted in for a BRCA test. As an oncologist, she knew a mutation of this gene would put her at high risk for breast and ovarian cancer. She was relieved by the negative result. Two years later, after she learned she had breast cancer, she took a more complete genetic test from a different lab. This time it was positive. A study of 100,000 people released earlier this month suggested that this experience could be widespread. Nearly 90 percent of participants who carried a BRCA mutation would have been missed by 23andMe’s test, geneticists found. 23andMe’s testing formula for this risk is built around just three genetic variants, most prevalent among Ashkenazi Jews. The new study demonstrated that most people carry other mutations of the gene, something many doctors have long suspected....

Dr. Munster said that 23andMe was “not doing anything actively deceptive.” But she is still concerned that many customers do not grasp the limits of mail-in genetic testing. 23andMe now has more than 10 million customers. Even if only a small percentage take the test, that’s thousands who could be misled. Mary-Claire King, a professor at the University of Washington who discovered the region on the genome that became known as BRCA1, had a more blunt assessment of the Food and Drug Administration’s decision to allow the test....“The F.D.A. should not have permitted this out-of-date approach to be used for medical purposes,” Dr. King said. “Misleading, falsely reassuring results from their incomplete testing can cost women’s lives.”

For me, the fundamental question here is whether consumers "can be trusted" to order lab tests and interpret the results without physician intermediation. I have blogged frequently on this subject (see, for example: Comparison of "Traditional" Lab Testing with Direct Access Testing; An Estimate of the Size of the Direct Access Testing (DAT) Market). The excerpt from the article above focuses on an oncologist who seems to have been lead astray by a negative BRCA test from 23andMe, assuming that she was negative for any BRCA variant. I suspect that Dr. Munster was chosen as the focus of this story to make the point that the interpretation of the BRCA test results is so complex that even an oncologist, ordering the test for herself from 23andMe, could misinterpret the result.

I believe that allowing consumers to order certain routine lab tests for themselves is desirable because I also think that it will result in a general improvement in public health. Some people are too busy or not predisposed to visit a physician frequently. For them, ordering lab tests on the web may improve their health status. The pivotal issue in this discussion, then, is how laboratory tests should be reported to consumers. The most complex tests, particularly those requiring complex interpretation, should not be directly available to consumers. Consumers will generally not be lead astray by the performance of common lab tests but must be provided with reference ranges and instructed to seek the help of a physician for results that fall outside of normal ranges and/or when they have symptoms of a disease.