May 16, 2018 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
Harvard School of Medicine researcher discovers only a fraction of all known human genes are ever included in research studies
It seems every day that diagnostic test developers are announcing new genetic tests for everything from researching bloodlines to predicting vulnerability to specific chronic diseases. However, as most pathologists know, there are more than 20,000 protein-coding genes in the human genome. Thus, an overwhelming majority of genes are not being researched or studied.
That’s according to Peter Kerpedjiev, PhD, a Postdoctoral Fellow at Harvard Medical School in Boston. Kerpedjiev analyzed US National Library of Medicine (NLM) data from its PubMed database. He found that roughly 25% of the articles tagged by the NLM only featured 100 of the 20,000 human genes.
Kerpedjiev studied approximately 40,000 NLM articles that were tagged as describing the structure, function, or location of a particular gene. He then created a list of the top-10 most-studied genes of all time, which contained interesting and unforeseen disclosures.
“The list was surprising,” Kerpedjiev told Nature. “Some genes were predictable; others were completely unexpected.”
Guardian of the Genome
According Kerpedjiev, the top-10 most-studied genes are:
- TP53;
- TNF;
- EGFR;
- VEGFA;
- APOE;
- IL6;
- TGFBI;
- MTHFR;
- ESR1; and,
- AKT1.
Kerpedjiev discovered that the top gene on the list—Tumor protein p53 (TP53)—was mentioned in about 8,500 articles to date, and that it is typically included in about two PubMed papers per day. When he began his research three years ago, TP53 was referenced in about 6,600 articles.
Peter Kerpedjiev, PhD (above), is a Postdoctoral Fellow in the lab of Nils Gehlenborg at Harvard Medical School. Previously, he was a PhD student working on modelling the tertiary structure of RNA molecules at the Theoretical Biochemistry Group at the University of Vienna. (Photo and caption copyright: Gehlenborg Lab.)
The National Library of Medicine describes the TP53 gene as a tumor suppressor that regulates cell division by preventing cells from growing and proliferating too quickly or uncontrolled. It is mutated in approximately half of all human cancers and is often referred to as the “guardian of the genome.”
“That explains its staying power,” Bert Vogelstein, MD, Professor of Oncology and Pathology at Johns Hopkins School of Medicine in Baltimore, Md., told Nature. “In cancer, there’s no gene more important.”
Critical Roles in Prevention/Treatment of Chronic Disease
The remaining genes on the list also have crucial roles in the functioning of the human body and disease prevention and treatment. Below is a brief summary of genes two through 10 on the list:
TNF encodes a proinflammatory cytokine that is part of the tumor necrosis factor superfamily. This family of proteins was originally distinguished by their ability to cause the necrosis of neoplasms. The TNF gene has been a drug target for cancer and inflammatory diseases, such as:
EGFR makes a protein known as the epidermal growth factor receptor, which positions the cell membrane to bind to other proteins outside the cell to help it receive signals to trigger cell growth, division, and survival. At least eight known mutations of the EGFR gene have been associated with lung cancer and often appear in drug-resistant cases of the disease.
Vascular Endothelial Growth Factor A (VEGFA) contains a heparin-binding protein that promotes the growth of blood vessels and is critical for physiological and pathological angiogenesis. Variants of the VEGFA gene have been affiliated with microvascular complications of diabetes mellitus and atherosclerosis.
ApoE produces a protein named Apolipoprotein E, which combines with lipids in the body to form lipoproteins that carry cholesterol and other fats through the bloodstream. ApoE-e3 is the most common allele (a variant of the gene) and is found in more than 50% of the general population. In addition to its role in cholesterol and lipoprotein metabolism, ApoE is also associated with:
- Alzheimer’s disease;
- Age-related hearing loss; and,
- Macular degeneration.
Interleukin 6 (IL6) is a cytokine that is mainly produced at locations of acute and chronic inflammation. Once there, it is secreted into the serum where it incites an anti-inflammatory response. The IL6 gene is connected with inflammation-associated diseases such as:
Transforming Growth Factor Beta 1 (TGFB1) initiates chemical signals that regulate various cell activities including the proliferation, maturation, differentiation, motility, and apoptosis of cells throughout the body. The protein created by TGFB1 is abundant in skeletal tissues and regulates the formation and growth of bones and cartilage. Mutations in the TGFB1 gene have been associated with breast, colorectal, lung, liver, and prostate cancers. At least 12 mutations of this gene are known to cause Camurati-Engelmann disease, which is distinguished by hyperostosis (abnormally thick bones) in the arms, legs, and skull.
MTHFR makes methylenetetrahydrofolate reductase, an enzyme that performs a crucial role in processing amino acids. Polymorphisms of this gene have been linked to risk factors for a variety of conditions including:
- Cardiovascular disease;
- Stroke;
- Hypertension;
- Pre-eclampsia;
- Glaucoma;
- Psychiatric disorders; and,
- Various cancers.
Estrogen Receptor 1 (ESR1) is a ligand-activated transcription factor that is significant for hormone and DNA binding. Estrogen and its receptors are crucial for sexual development and reproductive functions. They also can affect pathological processes including breast and endometrial cancers and osteoporosis.
AKT1 provides instructions for producing a protein known as AKT1 kinase that is located in many cell types throughout the body and is essential for the development and function of the nervous system. This gene belongs to a classification of genes known as oncogenes, which when mutated have the potential to cause normal cells to turn cancerous.
We Don’t Know What We Don’t Know
“It’s revealing how much we don’t know about because we just don’t bother to research it,” noted Dr. Helen Anne Curry, Senior Lecturer and Historian of Modern Science and Technology at the University of Cambridge, UK, in the Nature article. As far back as 2010, Dark Daily reported on university researchers predicting massive growth in anatomic pathology and clinical laboratory diagnostic testing based on the human genome.
How Kerpedjiev’s discovery might impact future genetic diagnostic test development remains to be seen. It will, however, be fascinating to see how this top-10 list of the most studied genes will change over time and how medical laboratory genetic testing may be affected.
—JP Schlingman
Related Information:
The Most Popular Gene in the Human Genome
Top 10 Genes in the Human Genome (by Number of Citations)
Explore the Normal Functions of Human Genes and the Health Implications of Genetic Changes
Stanford Study Shows How Pathologists May Eventually Use the Whole Human Genome for Diagnostic Purposes
May 14, 2018 | Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Sales and Marketing, Management & Operations
Genetic counselors struggle to explain direct-to-consumer genetic test data—or correct provider misinterpretations of results—while often encountering resistance and anger from patients who don’t accept their counseling
Healthcare consumers who want to know more about their family’s genealogy are purchasing direct-to-consumer (DTC) home genetic tests in record numbers. It is a trend that worries some medical laboratory professionals and certain federal government agencies.
MIT Technology Review (MIT) dubbed 2017, “The year consumer DNA testing blew up.” As a result of record-breaking sales of DTC genetic testing last year, about 12-million people have now been tested, MIT reported. “The inflection pointed started in the summer of 2016, and from there it’s gone into the stratosphere,” David Mittelman, PhD, Molecular Biophysics, told MIT.
Clearly, consumers are becoming comfortable with the concept of genetic testing on themselves and their family members. However, major issues—such as who owns genetic information and how patient privacy is protected—have yet to be resolved.
Dark Daily recently reported that more than 1.5 million kits were sold by Ancestry.com during the four-day Black Friday/Cyber Monday weekend prior to Christmas 2017. That e-briefing also explored related privacy issues and informed readers about efforts by federal lawmakers to explore genetic testing companies’ privacy and disclosure practices.
According to a news release, by the end of November, sales of AncestryDNA kits exceeded the total number of subscribers the Utah-based company had when it started the year. Now, more than seven million people are in Ancestry’s database.
Meanwhile, 23andMe, a personal genomics company established in 2006, has genotyped more than three million people worldwide. In addition to an ancestry test, it offers a health and ancestry service providing information on genetic health risks, carrier status, traits, wellness, and ancestry, according to the company’s website.
Experts Concerned About Privacy and Use of ‘Raw’ DNA Data
“2018 will bring a regular drumbeat of new experiences and enhancements across both DNA and family history,” Howard Hochhauser, Ancestry’s Interim Chief Executive Officer, predicted in the news release.
However, a recent study published in Translational Behavioral Medicine (TBM) which noted the robust sales of DTC genetic tests in 2017, also called attention to a new concern surrounding the impact of “raw” DNA interpretation results.
“People often enter the direct-to-consumer market for recreational purposes, such as learning about their ancestry. Yet, what we started seeing was that these same individuals subsequently come across third-party interpretation services where they proceeded to learn more about their ‘raw’ DNA made available by the ancestry testing companies,” stated Catharine Wang, PhD, Boston University (BU) Associate Professor of Community Health Sciences, and the study’s lead author, in a BU statement.
The study cited sales of DTC genetic tests at $99 million in 2017 and explored potential negative implications of consumers’ access to “raw” DNA data.
“We were especially interested in the downstream implications of receiving unexpected disease risk information from these newer services that subsequently lead consumers to seek out a genetic counselor’s consult,” Wang noted.
Catharine Wang, PhD (above), Associate Professor of Community Health Sciences at Boston University and lead author of the study, notes, “There are a lot of people saying, ‘I’m smart enough to make decisions; give me the information and get the doctors out of the way. But they’re making some serious decisions about their health after seeing only part of the picture.” (Photo copyright: Boston University Research.)
After Getting DNA Data, Consumers Turn to Interpretation Services, Genetic Counselors
The research team surveyed 85 genetic counselors. Fifty-three percent of them reported meeting with DTC test costumers who had accessed ‘raw’ DNA data and used genetic interpretation companies, which are not regulated by the US Food and Drug Administration (FDA), to get more information about themselves. However, results of the sessions were not always positive for either patients or counselors.
According to the study, counselors reported their biggest challenge as “undoing misinterpretations and correcting patient beliefs about their raw DNA results.”
The study noted, “When genetic counselors tried to clarify misunderstandings, patients were not only resistant but sometimes appeared hurt and frustrated that counselors were not taking their results seriously.”
Other negative experiences counselors reported while interpreting “raw” DNA test results for patients include:
- “Time required to review and understand interpretation reports;
- “Feeling ill equipped and uncomfortable providing the service;
- “A lack of supportive organizational structure; and,
- “[Having to] correct a patient’s misunderstanding, following a primary care physician’s misinterpretation of her raw DNA results.”
“Counselors expressed concern about the quality of the raw data and the clarity and usefulness of interpretation reports. Efforts to better support both consumers and genetic service providers are needed to maximize the effective translation of genome-based knowledge for population health,” the study authors concluded.
Providers Should Improve Ability to Help Patients with DTC Genetic Data
In a MedCity News blog post, Peter Hulick, MD, Director of Personalized Medicine, NorthShore University HealthSystem, called for healthcare providers to assist patients who are dealing with new DTC genetic services and possible data overload.
“Findings show having widespread access to personal genetic information—without the knowledge of how to interpret results—can lead to problems ranging from misinterpretation to emotional distress,” he noted. “The medical community must work harder and smarter to incorporate this information into practice and empower patients as consumers and partners in healthcare decision-making.”
Anatomic pathologists and clinical laboratory leaders also should acknowledge and monitor consumers’ growing interest in these tests. Once patients’ have their DNA sequenced, the likelihood they will seek to know their predisposition to diseases is high and increasing. Thus, opportunities exist for medical laboratories to help physicians and consumers interpret DTC test results.
—Donna Marie Pocius
Related Information:
2017 Was the Year Consumer DNA Testing Blew Up
AncestryDNA Breaks Holiday Sales Record; Black Friday-Cyber Monday
At-Home Genetic Testing Leads to Misinterpretations of Results
The Impact of Raw DNA Availability and Corresponding Online Interpretation Services: A Mixed Methods Study
Consumer Interest in Genetic Testing is Exploding: Are Providers Ready?
Confronting Cancer
Sales of Direct-to-Consumer Clinical Laboratory Genetic Tests Soar, as Members of Congress Debate How Patient Data Should be Handled, Secured, and Kept Private
May 9, 2018 | Compliance, Legal, and Malpractice, Laboratory Hiring & Human Resources, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
Supreme Court of India ruling may finally ignite a crackdown on illegal medical laboratories that operate without a licensed pathologist
What would happen if 80% of Americans did not trust the medical laboratories that run their diagnostic tests? What impact would that have on this country’s clinical laboratory and anatomic pathology industry? Certainly, a significant one.
Well, that’s exactly what has happened in India. A survey on graft in India’s healthcare system conducted by LocalCircles, a community social media platform, has highlighted citizens’ distrust and disgust with the nation’s pathology laboratories. Only 20% of the 29,000 citizens surveyed said they “fully trusted” the pathology lab they use, while 32% of respondents said they had received one or more incorrect pathology reports in the past three years.
In India, the term “pathology laboratories” describes what are called clinical laboratories in the United States and Canada. Histopathology laboratories in India perform testing on tissue, just as anatomic pathology and surgical pathology laboratories do in North America.
According to the survey results, 91% of respondents believe clinical laboratories should lose their licenses if found to be giving incentives to doctors for prescribing tests. In addition:
- 86% of those surveyed feel doctors’ earnings in hospitals should be unrelated to the value of tests they refer to the hospital’s pathology lab; and,
- 59% believed kickbacks from labs incentivized doctors to prescribe unnecessary tests.
“One of the important cogs in the wheel of the medical system in our country are the pathology labs,” LocalCircles noted in the survey results. “Being a high profit business, thousands of them have mushroomed in different parts of the country. Many people say these pathology labs have a tie up with the doctors and pass on a commission to the doctors for every patient they send to them.”
India’s Medical Laboratories Under Increasing Scrutiny
The LocalCircles survey underscores the ongoing concerns in India over the quality of its medical laboratories, which have come under fire for lack of regulations and accreditation standards.
In India, the term “pathology” describes a laboratory performing standard medical laboratory tests, such as chemistry, hematology, immunoassay, and microbiology. Histopathology is the term used to describe diagnostic testing that utilizes tissue specimens.
Last year we reported on the tens of thousands of lab companies that continue to operate in India without certified pathologists and other trained lab scientists. (See Dark Daily, “Shortage of Registered Pathologists in India Continues to Put Patients at Risk in Illegal Labs that Defy Bombay Court Orders,” April 12, 2017.)
Technicians Cannot Run Pathology Laboratories, Supreme Court of India Rules
There are signs, however, that the tide may be turning against unqualified pathology labs. Last year, The Supreme Court of India upheld a lower court order that directed only a “qualified and registered pathologist, with a postgraduate qualification in pathology” can countersign a patient’s pathology report, the Times of India (TOI) reported.
The TOI quoted an unnamed senior food and drug department official as saying, “Many technicians with [a] diploma in Medical Laboratory Technology and other equivalent qualifications are operating pathology laboratories,” because no laws currently exist requiring a qualification in pathology as a prerequisite for running a private laboratory.
“If unqualified people certify medical reports, it will hamper patient treatment,” Sadhana Kothari, MD, Associate Professor, Department of Pathology at Gujarat Cancer Society Medical College in Gujarat, India, told the TOI. “A doctor’s analysis and patient’s treatment [are] dependent on clinical tests. The Supreme Court judgment will ensure that illegal labs do not operate.”
Local press coverage like that above highlights the severe pressure India’s pathology laboratory industry faces following the Supreme Court of India’s ruling that only qualified and registered pathologist—with a postgraduate qualification in pathology—can run pathology laboratories or sign off on pathology reports. (Image copyright: VAPM Pathologists and Microbiologists Welfare Society.)
Illegal Labs Continue to Operate Despite India Court Rulings
The Supreme Court decision means that PhDs, laboratory technicians, and others without proper medical credentials can no longer sign laboratory reports. The Supreme Court verdict emphasized that labs operating without a qualified pathologist should cease operations until a qualified pathologist can be hired. However, earlier verdicts in the Indian court system have failed to end the proliferation of illegal labs.
According to the TOI, the Association of Practicing Pathologists (India) (APPI) first filed a writ in 1998 to prevent individuals not qualified in pathology and/or registered with the Medical Council of India from running laboratories. In 2010, the Gujarat High Court ruled, “Laboratory technicians are not pathologists and cannot run any laboratory independently.”
A month after the Gujarat High Court decision, pathologists in Gujarat complained the state government had failed to initiate criminal action against people running unauthorized labs. The Indian Express reported the Gujarat Association of Pathologists and Microbiologists was starting a public awareness campaign to stop illegal labs from operating because the state government had not shut down illegal operators.
Number of Qualified Pathologists Decreasing
The ruling by the Supreme Court of India, however, may result in concrete action being taken by the states. On February 6, 2018, the Pune Mirror reported the Maharashtra State Human Rights Commission (MSHRC) ordered the state public health department and the director of medical education and research to identify and take action against labs working without valid licenses.
According to the Pune Mirror, only 2,200 of the state’s 10,000 diagnostic laboratories are headed by certified pathologists. The Maharashtra Association of Practicing Pathologists and Microbiologists (MAPPM), the largest body of certified pathologists in the state, claims as many as 8,000 pathology labs in Maharashtra function without licenses.
“The state government has the mechanism to keep a tab on such labs, but they don’t take action,” Sandeep Yadav, MD, President of MAPPM, told the Pune Mirror. “It has become an easy way to earn money because there is no law yet around registering labs. Many people open laboratories simply by observing pathologists over time, and it could be a threat to a patient’s life, as it has been observed that many labs are illegal or run by technicians. The number of qualified pathologists is decreasing and genuine people don’t want to pick up the profession.”
Also in February 2018, the New India Assurance Company, the country’s largest insurer, instructed its regional offices to not approve medical claims from pathology laboratories if the reports are signed by unlicensed and unqualified staff, the Pune Mirror reported.
The challenges of providing first-line medical laboratory testing services in countries like India demonstrate how expectations of quality and accuracy are driving change in these rapidly-developing nations. It is a reminder to clinical laboratory managers and pathologists in the United States that the trust of patients and government regulators is a valuable asset.
—Andrea Downing Peck
Related Information:
Majority Say a Corrupt Nexus Exists Between Pathology Labs and Doctors
GAPM: Bogus Pathology Labs Playing with People’s Lives
State to Crack Down on Illegal Path Labs
Pathologists Start Awareness Campaign after HC Order
Pathologist Body Launches Campaign Against Rogue Labs
Insurance Major Says No to Illegal Lab Reports
Shortage of Registered Pathologists in India Continues to Put Patients at Risk in Illegal Labs that Defy Bombay Court Orders
Apr 27, 2018 | Digital Pathology, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
Regardless of potential confusion, the bill’s passage is seen as a positive step toward greater transparency by high-level members of the state’s government
In an effort to promote price transparency in healthcare, Colorado legislators passed a new law requiring hospitals in that state to post self-pay prices for the most common procedures and treatments. Their hope is healthcare consumers who lack insurance will find it easier to price shop and, therefore, make informed healthcare decisions.
However, not all providers in that state think the bill is needed and some are concerned it could cause confusion. It remains to be seen how Colorado hospital medical laboratories and outpatient practices, such as anatomic pathology groups, will be impacted by the new transparency requirements.
Potential Confusion a Concern for UCHealth
The Transparency in Health Care Prices Act (SB17-065), which took effect on January 1, 2018, calls for Colorado hospitals to post self-pay prices for their top 50 diagnosis-related-group codes; and self-pay prices for the 25 leading current procedural technology billing codes, according to the Denver Business Journal.
Physicians’ practices and other providers also must post prices for their 15 most popular procedures under the new law, Healthcare Dive reported. In an issues brief, the Colorado Hospital Association (CHA) supported the bill “because it aligns with the Association’s transparency policy principles.”
But some Colorado healthcare providers have expressed concerns about the new requirements.
“Because of the complexity of pricing, it’s possible the self-pay prices we have posted on our website might increase confusion,” Dan Weaver, Senior Director of Public Relations for UCHealth, told Colorado Politics. “Patients who have insurance coverage, Medicaid or Medicare will have very different out-of-pocket responsibilities [from the posted price].” The article was later published in the Durango Herald.
Various points of potential confusion include:
- Prices show what self-pay patients must pay and not what an insured patient would pay under their health plans, which would be much lower;
- Only 7% of Colorado residents are uninsured, according to a Colorado Health Institute report; and,
- Even an “apple-to-apple” comparison by price is not so easy to do, reported Healthcare Finance based on its analysis of some Colorado hospitals’ price lists.
Christine Clark, Associate CFO Revenue Cycle (above), Denver Health, told Healthcare Finance, “We do have concerns that this will make the issue more confusing to patients as there is not a ‘one size fits all’ approach to providing patients estimates due to the wide variability insurance plans bring to the process. Providing a self-pay price for a service is probably the least complicated.” However, she added, “There is always some variability in the price of procedures due to different patient needs.”
Regardless of the potential confusion, however, some see passage of the bill as a step in the right direction.
Senate Republican Kevin Lundberg (above right) shaking hands with Colorado’s governor following signing of SB17-065, which Lundberg sponsored. In a statement, he noted, “Coloradans have a tough enough time navigating the complicated structure of our broken healthcare system without worrying about hidden healthcare costs.” (Photo copyright: Colorado Senate Republicans.)
Studies Show Consumers Not Highly Motivated to Shop for Healthcare
Ironically, consumers do not appear to be rushing to compare hospital prices, as they do for other products and services. And those who do shop around do not like the price data tools or understand the data, state and national studies found.
“Even with pricing data available, patients tend to rely more on their physician’s advice about where and from whom to seek medical care,” noted the Health Policy Institute of Ohio (HPIO). According the HPIO report, consumers say healthcare price data tools are not user-friendly.
And a national study, published in Health Affairs, that explored American’s views and habits when shopping for healthcare, noted:
- Only 13% of 3,000 survey respondents who had out-of-pocket responsibilities sought cost information before their healthcare encounters; and,
- Just 3% compared costs across possible providers before accessing care.
The researchers acknowledged the existence of price transparency tools, such as those offered by Colorado, Ohio, and on other state websites. Nevertheless, survey respondents still reported:
- Lack of awareness about available price information;
- Unwillingness to switch providers; and,
- Network constraints and lack of providers available to patients.
“Simply passing price transparency laws or regulations appears insufficient to facilitate price shopping. Price information must be more accessible and comprehensible,” the study authors wrote in Health Affairs. “Even if information was more accessible, patients’ preference to maintain provider relationships and efforts to coordinate care would limit overall rates of shopping.”
Keeping it Simple Could Be the Key
Researchers suggested non-urgent services in quantity, such as a package of physical therapy visits, may best suit comparison price shopping.
“Price is not being presented in a simplified enough way for consumers to make informed decisions,” Elena Prager, PhD, Assistant Professor, Kellogg School of Management, Northwestern University, told Healthcare Finance.
Ultimately, it’s not enough that healthcare price data is simply made available to consumers, it also must be easily found and understood. Though transparency laws might not be directly aimed at clinical laboratories; lab leaders are nonetheless encouraged to ensure self-pay prices for procedures and diagnostic tests are accessible to the public.
—Donna Marie Pocius
Related Information:
Colorado Hospitals Must Begin Posting Prices for Most Common Procedures on Jan. 1
Colorado Law Requires Hospitals Post Prices for Common Procedures
Issue Brief, Senate Bill 17-065 Price Transparency
Colorado Sings Law Mandating Hospitals Post Self-Pay Prices
New Colorado Law Gives Patients More Transparency on Medical Fees
Colorado Health Access Survey
Healthcare Data Transparency Basics-2016
Americans Support Price Shopping for Health Care, But Few Actually Seek Out Price Information
Vitals Study Shows Consumers Using Cost Transparency Tools Select Clinical Laboratories with Low Test Prices
Apr 25, 2018 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
Direct-to-consumer medical laboratory testing company gets a major shot in the arm as developers find ready investors and increasing consumer demand
Clinical laboratory tests, usually performed without fanfare, were thrust into the limelight during a recent episode of Shark Tank, an American reality TV show on which aspiring entrepreneurs compete for the attention and partnership funds of various investors.
EverlyWell, a direct-to-consumer (DTC) company that offers at-home lab tests without lab visits or doctor referrals, obtained a $1-million line of credit from Lori Greiner, one of Shark Tank’s participating entrepreneurs, according to MobiHealthNews. EverlyWell has consumers collect their own specimens at home, which are then sent to a medical laboratory testing facility.
Based in Austin, Texas, EverlyWell was founded in 2015 by Julia Taylor Cheek, CEO, with an aim to “make lab tests accessible, simple, and meaningful,” according to a news release. Cheek is also a Venture Partner with NextGen Venture Partners and formerly the Director of Strategy and Operations with the George W. Bush Institute.
“It’s incredible for the industry that we were selected and aired on a show like Shark Tank. It really shows the intersection of what’s happening in consumer healthcare and the high cost in healthcare and that people are really responding to new solutions,” Cheek told MobiHealthNews.
“I think the product is brilliantly crafted,” Greiner stated during the episode’s taping, according to MobiHealthNews. “It’s really nice; it’s really easy. It’s super clear. I think the state of healthcare in our country now is so precarious. I think this gives people an empowered way … to know whether or not they have to go find a doctor,” she concluded.
Greiner offered the $1 million line of credit (with 8% interest) in exchange for a 5% equity stake in EverlyWell, explained Austin360. According to SiliconHillsNews, she did so after reviewing certain EverlyWell financial indicators, including:
- $2.5 million in revenue in 2016;
- $5 million expected revenue in 2017; and
- 20% monthly growth rate.
Julia Cheek, CEO and Founder of EverlyWell (above), in a news release following her success on reality show Shark Tank, said, “We’re leading a major shift in the consumer health marketplace by bringing the lab to consumers’ doorsteps, and we are moving quickly to expand our channels, launch innovative tests, and deliver a world-class customer experience.” (Photo copyright: Forbes/Whitney Martin.)
Physician Review Still Part of Home-testing Process
EverlyWell lists 22 home lab tests on its website and a market share that encompasses 46 states. Shoppers can search for specific tests based on symptoms or by test categories that include:
- General Wellness;
- Men’s Health;
- Women’s Health;
- Energy and Weight; and
- Genomic Test (through a partnership with Helix, a personal genomics company).
The most popular test panels include:
- Food sensitivity;
- Thyroid;
- Metabolism;
- Vitamin D; and,
- Inflammation.
Prices range from $59 for a glycated hemoglobin (HbA1c) test (found under the general wellness category) to $399 for a women’s health testing kit. EverlyWell explains that it has no insurance contracts for these diagnostic tests, which do not require office or lab visits.
The testing process, according to EverlyWell’s website, proceeds as follows:
- After ordering and paying online, kits arrive at the customer’s home;
- The consumer self-collects a sample (such as blood spots, dried urine, or saliva) and returns it by prepaid mail to a medical laboratory that partners with EverlyWell. The company notes that it works with CLIA (Clinical Laboratory Improvement Amendment)-certified laboratories;
- A board-certified doctor reviews the lab results; and,
- A report is available online in a few days.
“Our goal is not to remove the importance of physician review. It’s to make the experience easier for the consumer,” Cheek told Texas CEO Magazine. “We designed a platform that is all about access and empowering consumers to have access to and monitor their own health information,” she continued.
Texas CEO Magazine explained that Cheek was inspired to create the company following “a bad personal experience with health and wellness testing that sent her to seven different specialists, cost $2,000 out of pocket, and left her with pages of unreadable results.”
Since then, the three-year old start-up company has garnered more than $5 million in venture capital, noted the news release.
Many Choices in Direct-to-Consumer Lab Company Market
EverlyWell is not the only player in the DTC clinical laboratory test space. According to MedCityNews, there are at least 20 other DTC lab test companies in the market including:
- 23andMe;
- Laboratory Corporation of America (LabCorp);
- Mapmygenome;
- Pathway Genomics;
- Quest Diagnostics (Quest);
- Sonora Quest Labs;
- Theranos; and others.
The direct-to-consumer lab test market grew from $15 million to about $150 million in 2015 and includes both large and small clinical laboratory test developers, noted Kalorama Information.
Clearly, the DTC testing market is expanding and garnering the attention of major developers and investors alike. This growing demand for home-testing diagnostics could impact anatomic pathology groups and smaller clinical laboratories in the form of reduced order testing and decreased revenue.
—Donna Marie Pocius
Related Information:
Mail-Order Lab Test Startup EverlyWell Makes Million Dollar Deal on ABC’s Shark Tank
EverlyWell Raises Additional Capital, Bringing Total to $5 Million
This Austin Entrepreneur Scored Historic Deal on Shark Tank
Austin-based EverlyWell Lands Deal on Shark Tank
Innovative Texas Businesses: Empowering Consumers; Julia Cheek’s EverlyWell’s Health and Wellness Testing
Meet the Start-up Revolutionizing the Lab Testing Industry
20 Key Payers in the Direct-to-Consumer Lab Testing Market
Direct-to-Consumer Services Put Down Roots in US Lab Testing Market
Clinical Pathology Laboratories Should Expect More Direct-to-Consumer Testing
Sales of Direct-to-Consumer Clinical Laboratory Genetic Tests Soar, as Members of Congress Debate How Patient Data Should be Handled, Secured, and Kept Private
Apr 23, 2018 | Compliance, Legal, and Malpractice, Laboratory Hiring & Human Resources, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
Critics are quick to note that this creates a disparity in how patients access healthcare services
Independent concierge care (AKA concierge medicine) is available to anyone willing to pay the additional costs, which are over and above any health insurance. In a concierge care medical practice, patients pay an annual retainer fee to gain increased access to doctors, specialists, and services, such as faster TATs on clinical laboratory testing.
Depending on the program, concierge care also can offer patients a range of “improved” healthcare benefits, including same-day appointments, extended appointment times, around-the-clock telehealth services, and the experience of receiving care from a physician with a smaller patient roster and in a more personalized manner.
Clinical laboratories and anatomic pathology groups might also find benefit from the concierge care model. Though some concierge providers bill insurance, most work on a cash basis with payment due upfront for services. This ensures prompt payment for any medical laboratory testing provided, reduces administrative overhead, and eliminates the need to deal with payers.
Concierge Medicine Is Not Just for the Wealthy Anymore
Since its inception, concierge care has been considered a luxury available to only financially well-off patients. However, that may soon change. Several major health systems and hospitals are piloting scaled-back versions of concierge care aimed at both middle- and upper-class consumers. However, the programs are not without critics and have elicited both positive and negative responses from healthcare providers.
According to Modern Healthcare, hospitals and health systems currently testing concierge care programs include:
Patients with busy schedules or chronic conditions may see the biggest gains from investing in concierge care. The added flexibility and increased access might allow them to take advantage of care options more frequently. Physicians being able to take their time during consultations and more closely focus on specific concerns is also seen as a benefit to patients.
However, Modern Healthcare points out that patients are not the only ones to see benefits from this arrangement.
“Doctors who have switched to concierge-style medicine sing its praises, claiming the smaller patient panel allows the doctor to build relationships with patients and spend more time on preventive medicine,” Modern Healthcare noted.
In 2016, Dark Daily reported on similar findings from the American Academy of Private Physicians (AAPP). They noted that the average primary care physician in the US maintained between 2,000 and 4,000 patients using the traditional care model. In contrast, the AAPP found concierge physicians maintained on average only 600 patients. (See, “Concierge Medicine Increases in Popularity as More Consumers Opt for This Care Model; Will Clinical Laboratories Exploit This Business Opportunity?” May 6, 2016.)
Paul Huang, MD, PhD (above right), a concierge doctor at Massachusetts General Hospital, told Modern Healthcare, “We are not doing this just to make more money—we are doing this to make money to put back into the mission of the hospital and to support programs that otherwise would be difficult to support.” (Photo copyright: Modern Healthcare.)
Concierge Care: Controversial Approach or Major Boon to Hospitals?
Since its debut in the 1990s, concierge care has faced scrutiny and opposition from those who feel it discriminates against those who cannot afford retainer premiums and out-of-pocket expenses.
One health system that has drawn such criticism is Michigan Medicine (MM), which is owned by the University of Michigan. As reported by the Detroit Free Press, in a letter to hospital administration, 200 of MM’s own doctors and staff expressed their feelings about the concierge care program, stating, “Victors Care purports to offer ‘better’ healthcare to those with enough money to pay a large access fee. The University of Michigan is a public institution and our commitment is to serve the public, not a private few. We do not feel this is the role of a state university and are unable to justify this to the patients and families we serve.”
Tom Cassels, a consulting partner with the Advisory Board Company, told Modern Healthcare, “It’s a cultural learning curve, because most not-for-profit health systems are geared toward providing the same level of service to everyone in their community. The fundamental model of concierge medicine is to price-discriminate.”
However, media coverage also highlights how the hospitals creating concierge care services are using the financial benefits to help offset the cost of low-margin services or provide care to low-income patients who wouldn’t otherwise have access to care.
Misty Hathaway, Senior Director of the Center for Specialized Services at Mass General, explained to Modern Healthcare that since their physicians are salaried, margins from concierge services can help support “things like our substance abuse program, or other parts of primary care where the margin is a little bit harder to achieve.”
Despite the ethical debates, use of concierge care services continues to gain momentum as middle and upper-class patients find the increased quality of care a worthy value proposition. As more options emerge at major healthcare centers, medical laboratories and other service providers might find that this trend also offers an opportunity to increase revenue with a minimal impact on administrative and billing costs.
—Jon Stone
Related Information:
Concierge Care Taking Hold at Some Large, Urban Hospitals
No Appointment? No Problem … For a Price
Exclusive U-M Medical Plan Buys You ‘Better’ Care, Special Access
The Future of Healthcare Could Be in Concierge Medicine
The Doctor Won’t See You Now
Concierge Medicine Increases in Popularity as More Consumers Opt for This Care Model; Will Clinical Laboratories Exploit This Business Opportunity?
More Doctors Consider Concierge Medicine as Healthcare Reform Looms
Concierge Medicine Trend Continues and Creates New Clients for Clinical Pathology Laboratories
