Nov 2, 2018 | Coding, Billing, and Collections, Compliance, Legal, and Malpractice, Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
Patient privacy, ethics of monetizing not-for-profit data, and questions surrounding industry conflicts appear after the public announcement of an arrangement to grant exclusive access to academic pathology slides and samples
Clinical laboratories and anatomic pathology groups already serve as gatekeepers for a range of medical data used in patient treatments. Glass slides, paraffin-embedded tissue specimens, pathology reports, and autopsy records hold immense value to researchers. The challenge has been how pathologists (and others) in a not-for-profit academic center could set themselves up to potentially profit from their exclusive access to this archived pathology material.
Now, a recent partnership between Memorial Sloan Kettering Cancer Center (MSK) and Paige.AI (a developer of artificial intelligence for pathology) shows how academic pathology laboratories might accomplish this goal and serve a similar gatekeeper role in research and development using the decades of cases in their archives.
The arrangement, however, is not without controversy.
New York Times, ProPublica Report
Following an investigative report from the New York Times (NYT) and ProPublica, pathologists and board members at MSK are under fire from doctors and scientists there who have concerns surrounding ethics, exclusivity, and profiting from data generated by physicians and but owned by MSK.
“Hospital pathologists have strongly objected to the Paige.AI deal, saying it is unfair that the founders received equity stakes in a company that relies on the pathologists’ expertise and work amassed over 60 years. They also questioned the use of patients’ data—even if it is anonymous—without their knowledge in a profit-driven venture,” the NYT article states.
Prominent members of MSK are facing scrutiny from the media and peers—with some relinquishing stakes in Paige.AI—as part of the backlash of the report. This is an example of the perils and PR concerns lab stakeholders might face concerning the safety of data sharing and profits made by medical laboratories and other diagnostics providers using patient data.
Controversy Surrounds Formation of Paige.AI/MSK Partnership
In February 2018, Paige.AI announced closing the deal on a $25-million round of Series A funding, and in gaining exclusive access to 25-million pathology slides and computational pathology intellectual property held by the Department of Pathology at Memorial Sloan Kettering. Coverage by TechCrunch noted that while MSK received an equity stake as part of the licensing agreement, they were not a cash investor.
Creation of the company involved three hospital insiders and three additional board members with the hospital itself established as part owner, according to STAT.
Unnamed officials told the NYT that board members at MSK only invested in Paige.AI after earlier efforts to generate outside interest and investors were unsuccessful. NYT’s coverage also notes experts in non-profit law and corporate governance have raised questions as to compliance with federal and state laws that govern nonprofits in light of the Paige.AI deal.
Growing Privacy Fallout and Potential Pitfalls for Medical Labs
The original September 2018 NYT coverage noted that Klimstra intends to divest his ownership stake in Paige.AI. Later coverage by NYT in October, notes that Democrat Representative Debbie Dingell of Michigan submitted a letter questioning details about patient privacy related to Paige.AI’s access to MSK’s academic pathology resources.
Privacy continues to be a focus for both media and regulatory scrutiny as patient data continues to fill electronic health record (EHR) systems as well as research and commercial databases. Dark Daily recently covered how University of Melbourne researchers demonstrated how easily malicious parties might reidentify deidentified data. (See “Researchers Easily Reidentify Deidentified Patient Records with 95% Accuracy; Privacy Protection of Patient Test Records a Concern for Clinical Laboratories”, October 10, 2018.)
According to the NYT, MSK also issued a memo to employees announcing new restrictions on interactions with for-profit companies with a moratorium on board members investing in or holding board positions in startups created within MSK. The nonprofit further noted it is considering barring hospital executives from receiving compensation for their work on outside boards.
However, MSK told the NYT this only applies to new deals and will not affect the exclusive deal between Paige.AI and MSK.
“We have determined,” MSK wrote, “that when profits emerge through the monetization of our research, financial payments to MSK-designated board members should be used for the benefit of the institution.”
There are no current official legal filings regarding actions against the partnership. Despite this, the arrangement—and the subsequent fallout after the public announcement of the arrangement—serve as an example of pitfalls medical laboratories and other medical service centers considering similar arrangements might face in terms of public relations and employee scrutiny.
Risk versus Reward of Monetizing Pathology Data
While the Paige.AI situation is only one of multiple concerns now facing healthcare teams and board members at MSK, the events are an example of risks pathologists take when playing a role in a commercial enterprise outside their own operations or departments.
In doing so, the pathologists investing in and shaping the deal with Paige.AI brought criticism from reputable sources and negative exposure in major media outlets for their enterprise, themselves, and MSK as a whole. The lesson from this episode is that pathologists should tread carefully when entertaining offers to access the patient materials and data archived by their respective anatomic pathology and clinical laboratory organizations.
—Jon Stone
Related Information:
Sloan Kettering’s Cozy Deal with Start-Up Ignites a New Uproar
Paige.AI Nabs $25M, Inks IP Deal with Sloan Kettering to Bring Machine Learning to Cancer Pathology
Sloan Kettering Executive Turns Over Windfall Stake in Biotech Start-Up
Cancer Center’s Board Chairman Faults Top Doctor over ‘Crossed Lines’
Memorial Sloan Kettering, You’ve Betrayed My Trust
LVHN Patient Data Not Shared with For-Profit Company in Sloan Kettering Trials
Researchers Easily Reidentify Deidentified Patient Records with 95% Accuracy; Privacy Protection of Patient Test Records a Concern for Clinical Laboratories
Oct 24, 2018 | Compliance, Legal, and Malpractice, Laboratory News, Laboratory Pathology, Laboratory Sales and Marketing, Laboratory Testing, Management & Operations
Though patients get a big discount when paying for drugs, copay accumulators prohibit discounts from applying to plan deductibles, extending time it takes for enrollees to reach full plan coverage
There’s a new insurance/payer industry tactic in town and Dark Daily thinks clinical laboratories and anatomic pathology groups should know about it. It’s called a “copay accumulator” and it was designed by payers in response to pharmaceutical company copay assistance cards and discount coupons.
How do Copay Accumulators Work?
Many consumers use manufacturer copay assistance programs, copay cards, and coupons to afford expensive brand-name medications. As payers attempt to make consumers pay a higher portion of drug costs, pharmaceutical companies have responded by offering financial aid to patients in the form of copay assistance cards and coupons. These discounts insulate patients from having to pay the full deductible required by their health insurance plans for medicines prescribed by their doctors.
However, payers say these deductibles were designed to motivate patients to monitor the price of prescribed drugs and discourage the overutilization of costly medicines. A primary goal of price transparency and precision medicine.
The upside to payers is, with a copay accumulator in place, the amount of those manufacturer discounts does not count toward the patient’s insurance deductible. And the longer it takes for patients to reach their deductibles, the longer the insurer gets to collect copays, which adds to the controversy of copay accumulators.
Also, prohibiting drug manufacturer discounts from counting toward a patient’s insurance deductible prolongs the time patients have to wait before full coverage begins. Thus, more upfront costs are shifted to consumers.
“Copay accumulator programs are nothing more than insurance scheme[s] that leave patients financially exposed while benefiting payers’ bottom lines,” Stephen J. Ubl, President and Chief Executive Officer, Pharmaceutical Research and Manufacturers of America (PhRMA), told the LA Times.
Others, however, claim manufacturer discounts are simply marketing schemes used by pharmaceutical companies to keep drug costs high.
“The true issue remains that drug pricing continues to skyrocket, with no clear explanation on how those prices are set,” Cathryn Donaldson, Director of Communications, America’s Health Insurance Plans (AHIP), told the LA Times. “Copay coupon programs hide the true impact of rising prescription drug costs.” (Photo copyright: AHIP.)
Patients Stuck in the Middle
Physicians and patient advisory groups worry that shifting more drug costs to patients may affect therapy adherence and cause confusion for consumers.
“Accumulators are seen as a way to keep manufacturers in line and force them to negotiate better deals,” Randy Vogenberg, PhD, Principal, Institute for Integrated Healthcare (IIH), told Managed Care.
“But the Achilles heel for the pharmacy benefits manager is that you’re hurting the patient, who is stuck in the middle,” continued Vogenberg. “Patients may end up not taking or getting a drug, which is not good for anyone. And it’s not really affecting pricing because patients are still hurting. Unfortunately, it makes the third-party payer look like a crook.”
Managed Care notes that, according to a recent survey of 170 employers conducted by the National Business Group on Health (NBGH), 29% of employers plan on using copay accumulators in 2019. That’s up from the 17% of employers who are currently using them.
“They are not universal yet,” Steve Wojcik, Vice President of Public Policy at the NBGH, told Managed Care. “But they will probably continue to be one tool that employers use to keep costs down.”
Drug Costs Down, Cost to Patients Up
The struggles between payers and big pharma could be heating up. Studies show utilization of copay accumulators may be negatively impacting drug company revenue. Research conducted by Sector and Sovereign (SSR) found that retail drug prices in the United States fell 5.6% during the first quarter of this year. During the same period last year, prices fell just 1.7%. SSR’s report states that most of the decline in prices is due to copay accumulators.
“Unless manufacturers adapt their copay support programs fairly drastically, net price declines may worsen in 2019,” SSR analyst Richard Evans told Reuters.
Clinical laboratories might not directly feel the effects of copay accumulators. Nevertheless, anything that impacts patients’ ability to pay, especially those on high-deductible health plans, should be on the radar of smart lab managers and stakeholders.
—JP Schlingman
Related Information:
Copay Accumulators: Costly Consequences of a New Cost-Shifting Pharmacy Benefit
Backlash Against Copay Accumulators
Copay Accumulators: The Deductible Double-Dip
They’re Called ‘Copay Accumulators,’ and They’re a Way Insurers Make You Pay More for Meds
Insurance Tactic Drags Down U.S. Drug Prices in 2nd Quarter
Oct 19, 2018 | Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Managed Care Contracts & Payer Reimbursement, Management & Operations
Employers and consumers continue to pay more for health benefits from one year to the next, continuing a trend that is not auspicious for clinical laboratories and anatomic pathology groups
Most clinical laboratories don’t have the capability to collect payments from patients at time of service the same way patients pay doctors during office visits. Thus, Milliman’s annual report which details the increasing amounts patients are expected to pay out of their own pockets should be of interest to clinical laboratory managers and stakeholders. As this trend accelerates, labs will need to adopt new procedures and technologies to conduct business and remain profitable.
The Milliman Medical Index report (MMI) details how much consumers are predicted to pay for healthcare each year, as compared to previous years. Milliman, a Seattle-based independent actuarial and consulting firm with offices throughout the world, examines healthcare costs, property and casualty insurance, life insurance, financial services, and employee benefits.
Milliman released its first MMI in 2005. That year, the average annual medical cost for a family of four was $12,214.
Both Employees and Employers to See Increase in Healthcare Costs
The 2018 MMI report provides both good and bad news for the healthcare industry and patients. Milliman examined the costs for a typical family of four that participates in an employee-sponsored health insurance plan. For the report, a family of four consists of a 47-year old male, a 37-year old female, and two children under the age of five.
The MMI estimates a family of four will spend an average of $28,166 in healthcare expenditures in 2018. Included in this amount is the cost of the insurance paid by the employers and the employees, deductibles and out-of-pocket expenses. The figure represents an increase of $1,222 from 2017. The report found the amount families have been paying for healthcare has been increasing by an average of $100 per month over the last ten years.
The graphic above, taken from the 2018 Milliman Medical Index report, illustrates the increasing medical costs for a family of four. (Image copyright: Milliman.)
Both employers and employees will see an upsurge in costs from last year with employees experiencing an increase of 5.9% and employers seeing an increase of 3.5%.
The MMI found that employees will pay approximately 44% of their healthcare costs in 2018. By contrast, in 2008 employees paid less than 40% of their healthcare expenditures. In 2018, employers will pay about $15,788 of healthcare costs for a family of four, the employee will pay $7,674 via payroll deductions, with the remaining $4,704 being out-of-pocket expenses.
Costs Increasing While Growth Slows
The MMI also found that while the dollar amount families are spending on healthcare is increasing, the overall pace of the growth is slowing. The 4.5% rate of increase over last year is the slowest percentage growth in 18 years.
“We asked key stakeholders across the healthcare system what might be driving the decline in growth rates,” said Sue Hart, co-author of the MMI, in a Milliman news release. “Several common themes emerged, in particular provider engagement, more effective provider contracting, value-driven plan design, and spillover effects from public program initiatives.”
The reasons cited for this slowing trend include:
- Involvement of healthcare providers to reduce costs;
- More sophisticated contracting and provider consolidation;
- Increased member cost sharing;
- High deductible health plans;
- Role of government and public programs; and the,
- Impact of pharmacy initiatives.
“There are two ways of looking at this year’s MMI,” said Chris Girod, co-author of the Milliman Medical Index, in the news release. “On the one hand it’s heartening to see the rate of healthcare cost increase remain low. On the other hand, we’re still talking about more than $28,000 in total healthcare costs for the typical American family.”
The MMI graphic above breaks down healthcare costs into their constituent categories. (Image copyright: Milliman.)
To explore how costs have grown, the MMI examined five separate components of services. The typical family of four spends:
- 31% ($8,631) of their healthcare costs on inpatient facility care;
- 29% ($8,257) on professional services;
- 19% ($5,395) on outpatient facility care; and,
- 17% ($4,888) on pharmacy services.
The remaining 4% ($995) of costs are spent on other services, such as:
- Home healthcare;
- Ambulance services;
- Durable medical equipment; and,
- Prosthetics.
The MMI measures costs for a typical family of four, but certain families or individuals may have variations in costs depending on such factors as age, gender, health status, geographic area, provider variation, and insurance coverage.
Prescription drug costs is one such variance that is hard to predict. The 2018 MMI determined drug costs for a family of four increased by 6%, which represents the lowest percentage increase since 2015.
“Prescription drug costs have steadied, but this trend is volatile and hard to predict,” said Scott Weltz, co-author of the MMI in the news release. “High-cost drugs can have a big impact on trends, as we witnessed a few years ago when hepatitis C treatments hit the market. Alternatively, point-of-sale rebates could push a consumer’s costs in the other direction, particularly for people taking high-cost drugs. As the environment evolves, changes in drug prices can be deployed quite quickly.”
Scott Waltz (left), Christopher Girod (center), and Susan Hart (right) are Principles, Consulting Actuaries, for Milliman in Seattle. They co-authored the 2018 annual Milliman Medical Index report, which outlines the rising burden of out-of-pocket medical and insurance costs on patients, especially those on high deductible health plans. These costs are increasing and could impact clinical laboratories unprepared to collect fees at time of service. (Photo copyrights: Milliman.)
Preparing to Accept Payments
The results of this year’s MMI illustrate the impact increasing consumer costs could have on the way clinical laboratories conduct business and receive payments for services rendered. Studies have shown that patients with high deductible health plans (HDHPs), who frequently must pay 100% of lab costs, are especially affected by these trends. And the numbers of patients on HDHPs have increased each year since they were enacted.
Many clinical laboratories and anatomic pathology practices do not have the capability to collect fees from patients at the time of service. This lack of preparedness could threaten the survival of those labs and should be addressed.
—JP Schlingman
Related Information:
$28k: The Average Price a Family of Four Will Spend on Healthcare in 2018
2018 Milliman Medical Index
Milliman Medical Index: Healthcare Costs for Typical American Family Reach $28,166 Despite Low Annual Rate of Increase
Cost of Health Care for a Typical Family of Four Now over $28,000
Oct 18, 2018 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
Many of the newer patient-centered technologies are those based on the concept of remote patient monitoring (RPM).
RPM is proving so beneficial for patients and healthcare professionals, it has touched off a new wave of innovation—that of microsampling blood collection technology.
Download the free White Paper
More technicians, and the clinicians who rely upon them, are adopting patient-centric technologies to improve the quality of patient care and thus support enhanced clinical outcomes. Included in this proliferation of new technologies are those based on concept of remote blood sampling using microsampling technology.
Remote patient monitoring through microsampling blood collection makes many aspects of healthcare less invasive and intrusive for patients, with the ability to participate in one’s care from the comfort and privacy of his or her home. Expenses associated with healthcare travel and long wait times are minimized, patients take more control over their treatment, and are often happier than those who need to travel to have illnesses and chronic conditions monitored.
Dark Daily is pleased to offer a recently published free White Paper that shares with laboratory professionals valuable and informative insights on how the field-changing technology of microsampling can answer the challenges of changing remote patient requirements.
“How to Create a Patient-centered Lab with Breakthrough Blood Collection Technology: How to Save Time and Increase Profitability by Using Modular Technology to Improve Access Features, Automate Reporting & Expand Efficiencies” details the ways in which new microsampling blood collection methods facilitate a more patient-centric lab, and provide a user-friendly alternative to older, more intrusive or cumbersome methods.
In addition, this complimentary White Paper provides labs with a practical, step-by-step roadmap to new microsampling technology adoption, deployment, and success.
Download the free White Paper
At DarkDaily.com, readers can access free publications on a variety of topics tailored specifically to the needs of laboratory administrators, lab managers, pathologists, and lab industry consultants.
Oct 15, 2018 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
Silicon Valley startup is using gene sequencing to identify in the bloodstream free-floating genetic material shed by tumors
There has been plenty of excitement about the new diagnostic technologies designed to identify circulating tumor cells in blood samples. Now, a well-funded Silicon Valley startup has developed a blood test that it says holds promise for detecting early-stage lung and other cancers.
Though experimental, the screening test—which uses gene sequencing to identify in the bloodstream cancer-signaling genetic material shed by tumors—would be a boon for clinical laboratories and health networks. It also could play a role in advancing precision medicine treatments and drug therapies.
GRAIL, a Menlo Park, Calif., life sciences company, presented its initial findings at the 2018 American Society of Clinical Oncology Annual Meeting in Chicago. Its lung cancer data is part of GRAIL’s ongoing Circulating Cell-Free Genome Atlas (CCGA) study, which aims to enroll 15,000 participants and investigate 20 different types of cancers.
“We’re excited that the initial results for the CCGA study show it is possible to detect early-state lung cancer from blood samples using genome sequencing,” said lead study author Geoffrey Oxnard, MD, Dana-Farber Cancer Institute and Associate Professor of Medicine at Harvard Medical School, in a Dana-Farber news release.
“There is an unmet need globally for early-detection tests for lung cancer that can be easily implemented by healthcare systems,” lead study author Geoffrey Oxnard, MD (above), said in the Dana-Farber news release. “These are promising early results and the next steps are to further optimize the assays and validate the results in a larger group of people.” (Photo copyright: Dana-Farber Cancer Institute.)
According to the news release, researchers in this initial analysis explored the ability of three different prototype sequencing assays, each with 98% specificity, to detect lung cancer in blood samples:
“The initial results showed that all three assays could detect lung cancer with a low rate of false positives (in which a test indicates a person has cancer when there is no cancer),” the Dana-Farber news release noted.
Identifying Disease Risk Before Symptoms Appear
Screening tests help identify individuals who are not displaying disease symptoms but may be at high risk for developing a disease. GRAIL’s goal is to develop a test with a specificity of 99% or higher. This means no more than one out of 100 people would receive a false-positive.
Otis Brawley, MD, Chief Medical and Scientific Officer at the American Cancer Society, points out that specificity is important when developing a population-based screening test that ultimately would be given to large portions of the general public based on age, medical history, or other factors.
“I am much more concerned about specificity than sensitivity [true positive rate], and [GRAIL] exhibited extremely high specificity,” Brawley told Forbes. “You don’t want a lot of false alarms.”
Some cancer experts have a wait-and-see reaction to GRAIL’s initial results, due in part to the small sample size included in the sub-study. Benjamin Davies, MD, Associate Professor of Urology at the University of Pittsburgh School of Medicine, and an expert on prostate cancer screening, told Forbes the early data was “compelling,” but the number of patients in the study was too small to generate excitement.
Oxnard, however, believes the initial results validate the promise of GRAIL’s blood screening test project.
“I was a skeptic two years ago,” Oxnard, a GRAIL consultant, told Forbes. “I think these data need to put a lot of the skepticism to rest. It can be done. This is proof you can find cancer in the blood, you can find advanced cancer, therefore this has legs. This has a real future. It’s going to be many steps down the line, but this deserves further investigation and should move forward.”
Next Steps
Researchers next plan to verify the initial results in an independent group of 1,000 CCGA participants as part of the same sub-study. They then will attempt to optimize the assays before validating them in a larger data set from CCGA, the Dana-Farber news release explained.
Illumina, a sequencing-technology developer, formed GRAIL in 2016, with participating investments from Bill Gates, Bezos Expeditions and Sutter Hill Ventures. Since then, GRAIL has attracted other high-flying investors, including Amazon, Merck, Johnson and Johnson, and Bristol-Myers Squibb.
Forbes notes that as of 2018 GRAIL has raised $1.6 billion in venture capital and has a $3.2 billion valuation, according to private market data firm Pitchbook. Last year, GRAIL merged with Hong Kong-based Cirina Ltd., a privately held company also focused on the early detection of cancer.
While GRAIL’s projects hold promise, anatomic pathologists and clinical laboratories may be wise to temper their enthusiasm until more research is done.
“We all would like to dream that someday you’d be able to diagnose cancer with a blood test,” Eric Topol, MD, Executive Vice President and Professor of Molecular Medicine at Scripps Research, told Forbes. Topol says he’s “encouraged” by GRAIL’s methodical approach, but warns: “We’re at the earliest stage of that.”
—Andrea Downing Peck
Related Information:
Biotech Firm GRAIL Takes the First Steps in Its Quest for a Blood Test for Cancer
Blood Test Shows Potential for Early Detection of Lung Cancer
Detection via Blood-Based Screening
Illumina Launches GRAIL, Focused on Blood-Based Cancer Screening
GRAIL and Cirina Combine to Create Global Company Focused on Early Detection of Cancer
Oct 12, 2018 | Compliance, Legal, and Malpractice, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
Diagnostic medical laboratories may sequence DNA genetic tests correctly, but there are issues with how companies analyze the information
In 2017, some 12 million people paid to spit in a tube and have their genetic data analyzed, according to Technology Review. Many companies offer this type of DNA testing, and each of them works with one or more clinical laboratories to get the actual sequencing performed. For example, Ancestry.com, one of the largest direct-to-consumer genetic data testing companies, works with both Quest Diagnostics and Illumina.
In the case of Quest Diagnostics, the clinical laboratory company does the actual sequencing for Ancestry. But the analysis of the genetic data for an individual and its interpretation is performed by Ancestry’s team.
There are critics of the booming direct-to-consumer genetic testing business, but it’s not due to the quality of the sequencing. Rather, critics cite other issues, such as:
- Privacy concerns;
- How the physical samples are stored and used;
- Who owns the data; and,
- That this branch of genetics is an area of emerging study and not clearly understood.
What Does All That Genetic Data Mean?
The consumer DNA testing market was worth $359 million dollars in 2017 and is projected to grow to $928 million by 2023, according to a report from Research and Markets. Those numbers represent a lot of spit, and an enormous amount of personal health information. As of now, some one in every 25 adults in the US has access to their genetic data. But, what does all that data mean?
The answer depends, in large part, on who you ask. Many reporters, scientists, and others have taken multiple DNA tests from different companies and received entirely different results. In some cases, the sequencing from one sample submitted to different companies for analysis have rendered dramatically different results.
“There is a wild-west aspect to all of this,” Erin Murphy, a New York University law professor and genetics specialist who focuses on privacy implications, told McClatchy. “It just takes one person in a family to reveal the genetic information of everyone in the family,” she notes. (Photo copyright: New York University.)
It’s All About the Database
Although some people purchase kits from multiple companies, the majority of people take just one test. Each person who buys genetic analysis from Ancestry, for example, consents to having his/her data become part of Ancestry’s enormous database, which is used to perform the analyses that people pay for. There are some interesting implications to how these databases are built.
First, they are primarily made up of paying customers, which means that the vast majority of genetic datasets in Ancestry’s database come from people who have enough disposable income to purchase the kit and analysis. It may not seem like an important detail, but it shows that the comparison population is not the same as the general population.
Second, because the analyses compare the sample DNA to DNA already in the database, it matters how many people from any given area have taken the test and are in the database. An article in Gizmodo describes one family’s experience with DNA testing and some of the pitfalls. The author quotes a representative from the company 23andMe as saying, “Different companies have different reference data sets and different algorithms, hence the variance in results. Middle Eastern reference populations [for example] are not as well represented as European, an industry-wide challenge.”
The same is true for any population where not many members have taken the test for a particular company. In an interview with NPR about trying to find information about her ancestry, journalist Alex Wagner described a similar problem, saying, “There are not a lot of Burmese people taking DNA tests … and so, the results that were returned were kind of nebulous.”
Wagner’s mother and grandmother both immigrated to the US from Burma in 1965, and when Wagner began investigating her ancestry, she, both of her parents, and her grandmother, all took tests from three different direct-to-consumer DNA testing companies. To Wagner’s surprise, her mother and grandmother both had results that showed they were Mongolian, but none of the results indicated Burmese heritage. In the interview she says that one of the biggest things she learned through doing all these tests was that “a lot of these DNA test companies [are] commercial enterprises. So, they basically purchase or acquire DNA samples on market-demand.”
As it turns out, there aren’t many Burmese people taking DNA tests, so there’s not much reason for the testing companies to pursue having a robust Burmese or even Southeast Asian database of DNA.
Who Owns Your Genetic Data?
As is often the case when it comes to technological advances, existing law hasn’t quite caught up with the market for ancestry DNA testing. There are some important unanswered questions, such as who owns the data that results from a DNA analysis?
An investigation conducted by the news organization McClatchy found that Ancestry does allow customers to request their DNA information be deleted from the company’s database, and that they can request their physical sample be destroyed as well. The author writes, “But it is a two-step process, and customers must read deep into the company’s privacy statement to learn how to do it. Requests for DNA data elimination can be made online, but the company asks customers to call its support center to request destruction of their biological sample.”
Another concern is hacking or theft. Ancestry and similar companies take steps to protect customers’ information, such as using barcodes rather than names and encryption when samples are sent to labs. Nevertheless, there was an incident in 2017 in which hackers infiltrated a website owned by Ancestry called RootsWeb. “The RootsWeb situation was certainly unfortunate,” Eric Heath, Ancestry’s Chief Privacy Officer, told McClatchy. He added that RootsWeb was a “completely separate system” from the Ancestry database that includes DNA information.
What We Don’t Know
The biggest pitfall for consumers may be that geneticists don’t know very much about DNA analysis. Adam Rutherford, PhD, is a British geneticist who interviewed for the Gizmodo story. He said that the real problem with companies like Ancestry is that people have a basic, fundamental misunderstanding of what can be learned from a DNA test.
“They’re not telling you where your DNA comes from in the past. They’re telling you where on Earth your DNA is from today,” Rutherford told Gizmodo.
Science evolves, of course, and genetic testing has much evolving to do. The author of the Gizmodo piece writes, “It’s not that the science is bad. It’s that it’s inherently imperfect.” There aren’t any best-practices for analyzing DNA data yet, and companies like Ancestry aren’t doing much to make sure their customers understand that fact.
Nevertheless, issues surrounding genetic testing, the resulting data, and its storage, interpretation, and protection, continue to impact clinical laboratories and anatomic pathology groups.
—Dava Stewart
Related Information:
2017 Was the Year Consumer DNA Testing Blew Up
Quest Diagnostics and Ancestry DNA Collaborate to Expand Consumer DNA Testing
Illumina, Secret Giant of DNA Sequencing, Is Bringing Its Tech to the Masses
Global $928 Million Consumer DNA (Genetic) Testing Market 2018-2023 with 23andMe, Ancestry, Color Genomics and Gene by Gene Dominating
How DNA Testing Botched My Family’s Heritage, and Probably Yours, Too
A Journalist Seeks Out Her Roots but Finds Few Answers in the Soil
Ancestry Wants Your Spit, Your DNA and Your Trust. Should You Give Them All Three?
