News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
Sign In

University of California San Francisco Study Finds Both High and Low Levels of High-Density Lipoprotein Cholesterol Associated with Increased Dementia Risk

If validated, study findings may result in new biomarkers for clinical laboratory cholesterol tests and for diagnosing dementia

Researchers continue to find new associations between biomarkers commonly tested by clinical laboratories and certain health conditions and diseases. One recent example comes from research conducted by the University of California San Francisco. The UCSF study connected cholesterol biomarkers generally used for managing cardiovascular disease with an increased risk for dementia as well.

The researchers found that both high and low levels of high-density lipoprotein (HDL)—often referred to as “good” cholesterol—was associated with dementia in older adults, according to a news release from the American Academy of Neurology (AAN).

UCSF’s large, longitudinal study incorporated data from 184,367 people in the Kaiser Permanente Northern California health plan. How the findings may alter cholesterol biomarker use in future diagnostics has not been determined.

The researchers published their findings in the journal Neurology titled, “Low- and High-Density Lipoprotein Cholesterol and Dementia Risk over 17 Years of Follow-up among Members of Large Health Care Plan.”

Maria Glymour, ScD

“The elevation in dementia risk with both high and low levels of HDL cholesterol was unexpected, but these increases are small, and their clinical significance is uncertain,” said epidemiologist Maria Glymour, ScD (above), study author and Professor of Epidemiology and Biostatistics at UCSF School of Medicine, in a news release. This is another example of how researchers are associating common biomarkers tested regularly by clinical laboratories with additional health conditions and disease states. (Photo copyright: University of California San Francisco.)

HDL Levels Link to Dementia Risk

The UCSF researchers used cholesterol measurements and health behavior questions as they tracked Kaiser Permanente Northern California health plan members who were at least 55 years old between 2002 and 2007, and who did not have dementia at the time of the study’s launch.

The researchers then followed up with the study participants through December 2020 to find out if they had developed dementia, Medical News Today reported.

“Previous studies on this topic have been inconclusive, and this study is especially informative because of the large number of participants and long follow-up,” said epidemiologist Maria Glymour, ScD, study author and Professor of Epidemiology and Biostatistics at UCSF School of Medicine, in the AAN news release. “This information allowed us to study the links with dementia across the range of cholesterol levels and achieve precise estimates even for people with cholesterol levels that are quite high or quite low.” 

According to HealthDay, UCSF’s study findings included the following:

  • More than 25,000 people developed dementia over about nine years. They were divided into five groups.
  • 53.7 milligrams per deciliter (mg/dL) was the average HDL cholesterol level, amid an optimal range of above 40 mg/dL for men and above 50 mg/dL for women.
  • A 15% rate of dementia was found in participants with HDL of 65 mg/dL or above.
  • A 7% rate of dementia was found in participants with HDL of 11 mg/dL to 41 mg/dL.

“We found a U-shaped relationship between HDL and dementia risk, such that people with either lower or higher HDL had a slightly elevated risk of dementia,” Erin Ferguson, PhD student of Epidemiology at UCSF, the study’s lead study author, told Medical News Today.

What about LDL?

The UCSF researchers found no correlation between low-density lipoprotein (LDL)—often referred to as “bad” cholesterol”—and increased risk for dementia. But the risk did increase slightly when use of statin lipid-lowering medications were included in the analysis.

“Higher LDL was not associated with dementia risk overall, but statin use qualitatively modified the association. Higher LDL was associated with a slightly greater risk of Alzheimer’s disease-related dementia for statin users,” the researchers wrote in Neurology.

“We found no association between LDL cholesterol and dementia risk in the overall study cohort. Our results add to evidence that HDL cholesterol has similarly complex associations with dementia as with heart disease and cancer,” Glymour noted in the AAN news release.

Australian Study also Links High HDL to Dementia

A separate study from Monash University in Melbourne, Victoria, Australia, found that “abnormally high levels” of HDL was also associated with increased risk for dementia, according to a Monash news release.

The Monash study—which was part of the ASPREE (ASPpirin in Reducing Events in the Elderly) trial of people taking daily aspirin—involved 16,703 Australians and 2,411 Americans during the years 2010 to 2014. The researchers found:

  • 850 participants had developed dementia over about six years.
  • A 27% increased risk of dementia among people with HDL above 80 mg/dL and a 42% higher dementia risk for people 75 years and older with high HDL levels.

These findings, Newsweek pointed out, do not necessarily mean that high levels of HDL cause dementia. 

“There might be additional factors that affect both these findings, such as a genetic link that we are currently unaware of,” Andrew Doig, PhD, Professor, Division of Neuroscience at University of Manchester, told Newsweek. Doig was not involved in the in the Monash University research.

Follow-up research could explore the possibility of diagnosing dementia earlier using blood tests and new biomarkers, Newsweek noted.

The Australian researchers published their findings in The Lancet Regional Health-Western Pacific titled, “Association of Plasma High-Density Lipoprotein Cholesterol Level with Risk of Incident Dementia: A Cohort Study of Healthy Older Adults.”

Cholesterol Lab Test Results of Value to Clinical Labs

If further studies validate new biomarkers for testing and diagnosis, a medical laboratory’s longitudinal record of cholesterol test results over many years may be useful in identifying people with an increased risk for dementia.

Clinical pathologists and laboratory managers will want to stay tuned as additional study insights and findings are validated and published. Existing laboratory testing reference ranges may need to be revised as well.

As well, the findings of this UCSF research demonstrate that, in this age of information, there will be plenty of opportunities for clinical lab scientists and pathologists to take their labs’ patient data and combine it with other sets of data. Digital tools like artificial intelligence (AI) and machine learning would then be used to assess that large pool of data and produce clinically actionable insights. In turn, that positions labs to add more value and be paid for that value.

—Donna Marie Pocius

Related Information:

Both High and Low HDL Cholesterol Tied to Increased Risk of Dementia

Low-and High-Density Lipoprotein Cholesterol and Dementia Risk over 17 Years of Follow-up among Members of a Large Health Care Plan

Both High and Low HDL Cholesterol Tied to Slight Increase in Risk of Dementia

How HDL “Good” Cholesterol Might Raise Dementia Risk

HDL vs. LDL Cholesterol

How Levels of “Good” Cholesterol May Increase Dementia Risk

High Levels of “Good Cholesterol” May Be Associated with Dementia Risk, Study Shows

Association of Plasma High-Density Lipoprotein Cholesterol Level with Incident Dementia: A Cohort Study of Healthy Older Adults

Study Claims High Good Cholesterol Levels Linked to Greater Dementia Risk

Australia Launches Pilot Preventative Cancer Screening Program That Offers Low-cost DNA Genetic Testing to Healthy Adults Between Ages 18 to 40

Studies into use of population-level genomic cancer screening show promising results while indicating that such testing to find evidence of increased cancer risk among non-symptomatic people may be beneficial

In another example of a government health system initiating a program designed to proactively identify people at risk for a serious disease to allow early clinical laboratory diagnosis and monitoring for the disease, cancer researchers at Monash University in Australia have receive a $2.97 million grant from the Medical Research Future Fund (MRFF) to study ways to “identifying people who are living with a heightened cancer risk who would ordinarily be informed only after a potentially incurable cancer is diagnosed.”

The MRFF is a $20 billion fund controlled by the Australian Government’s Department of Health.

According to a Monash news release, the researchers, led by Associate Professor Paul Lacaze, PhD, Head of the Public Health Genomics Program at Monash University, plan to use the award to develop a “new low-cost DNA screening test which will be offered to 10,000 young Australians. The new approach, once scaled-up, has the potential to drastically improve access to preventive genetic testing in Australia, and could help make Australia the world’s first nation to offer preventive DNA screening through a public healthcare system.”

Called DNACancerScreen, the clinical genetic test will be offered to anyone between the ages of 18 and 40, rather than to a select group of people who have a family history of cancer or who present with symptoms. The Monash scientists hope to advance knowledge about the relationship of specific genes and how they cause or contribute to cancer. Such information, they believe, could lead to the development of new precision medicine diagnostic tests and anti-cancer drug therapies.

Gap in Current Cancer Screening Practices

The DNACancerScreen test will look for genes related to two specific cancer categories:

These are considered Tier 1 genetic risks by the federal Centers for Disease Control and Prevention (CDC).

Hereditary Breast and Ovarian Cancer Syndrome is associated with an increased risk of developing breast, ovarian, prostate, and pancreatic cancers, as well as melanoma. Lynch Syndrome is associated with colorectal, endometrial, ovarian, and other cancers.

Currently, screening practices may miss as many as 50-90% of individuals who carry genetic mutations associated with hereditary breast and ovarian cancer, and as many as 95% of those at risk due to Lynch Syndrome, according to the Monash news release.

But currently, only those with a family history of these cancers, or those who present with symptoms, are screened. By targeting younger individuals for screening, Lacaze and his team hope to give those at risk a better chance at early detection.

“This will empower young Australians to take proactive steps to mitigate risk, for earlier detection, surveillance from a younger age, and prevention of cancer altogether,” Lacaze said in the news release.

Paul Lacaze

Along with the possibility of saving lives, Associate Professor Paul Lacaze, PhD (above), Head of the Public Health Genomics Program at Monash University, expects that the screening program will have an economic impact as well. “This type of preventive DNA testing will not only save lives, but also save the Australian public healthcare system money by preventing thousands of cancers,” he said. There’s evidence to back up his statement. In 2019 he led a team that published a study, titled, “Population Genomic Screening of All Young Adults in a Healthcare System: A Cost Effectiveness Analysis.” That study concluded, “Preventive genomic screening in early adulthood would be highly cost-effective in a single-payer healthcare system, but ethical issues must be considered.” (Photo copyright: Monash University.)

Similar Genetic Studies Show Encouraging Results

Although the DNACancerScreen study in Australia is important, it is not the first to consider the impact of population-level screening for Tier 1 genetic mutations. The Healthy Nevada Project (HVN), a project that combined genetic, clinical, environmental, and social data, tested participants for those Tier 1 conditions. The project was launched in 2016 and currently has more than 50,000 participants, a Desert Research Institute (DRI) press release noted. 

In 2018, HVN began informing participants who had increased risk for hereditary breast and ovarian cancer, Lynch Syndrome, and a third condition called Familial Hypercholesterolemia. There were 27,000 participants, and 90% of those who had genetic mutations associated with the three Tier 1 conditions had not been previously identified.

“Our first goal was to deliver actionable health data back to the participants of the study and understand whether or not broad population screening of CDC Tier 1 genomic conditions was a practical tool to identify at-risk individuals,” said Joseph Grzymski, PhD, lead author of the HVN study in the DRI press release.

Grzymski is Principal Investigator of the Healthy Nevada Project, Director of the Renown Institute for Health Innovation, Chief Scientific Officer for Renown Health, and a Research Professor in Computational Biology and Genetics at the Desert Research Institute.

“Now, two years into doing that it is clear that the clinical guidelines for detecting risk in individuals are too narrow and miss too many at risk individuals,” he added.

A total of 358, or 1.33% of the 26,906 participants in the Healthy Nevada Project were carriers for the Tier 1 conditions, but only 25% of them met the current guidelines for screening, and only 22 had any previous suspicion in their medical records of their genetic conditions.

Another project, the MyCode Community Health Initiative conducted at Geisinger Health System, found that 87% of participants with a Tier 1 gene variant did not have a prior diagnosis of a related condition. When the participants were notified of their increased risk, 70% chose to have a related, suggested procedure.

“This evidence suggests that genomic screening programs are an effective way to identify individuals who could benefit from early intervention and risk management—but [who] have not yet been diagnosed—and encourage these individuals to take measures to reduce their risk,” a Geisinger Health press release noted.

Realizing the Promise of Precision Medicine

Studies like these are an important step in realizing the potential of precision medicine in practical terms. The Tier 1 genetic conditions are just a few of the more than 22,000 recognized human genes of which scientists have a clear understanding. Focusing only on those few genetic conditions enables clinicians to better help patients decide how to manage their risk.

“Genomic screening can identify at-risk individuals more comprehensively than previous methods and start people on the path to managing that risk. The next step is figuring out the impact genomic screening has on improving population health,” said Adam Buchanan, MPH, MS, Director of Geisinger’s Genomic Medicine Institute.

These are positive developments for clinical laboratories and anatomic pathology group practices. The three examples cited above show that a proactive screening program using genetic tests can identify individuals at higher risk for certain cancers. Funding such programs will be the challenge.

At the current cost of genetic testing, screening 100 people to identify a few individuals at high risk for cancer would probably not be considered the highest and best use of the limited funds available to the healthcare system.

—Dava Stewart

Related Information

Landmark New DNA Screening Study to Offer Free Genetic Testing to Young Adults for Cancer Risk

Population Genomic Screening of All Young Adults in a Healthcare System: A Cost-Effectiveness Analysis

Population Genetic Screening Shown to Efficiently Identify Increased Risk for Inherited Disease

Population Genetic Screening Efficiently Identifies Carriers of Autosomal Dominant Diseases

Results of Observational Study Published in Genetics in Medicine

Geisinger Researchers Find Genomic Screening Effective in Detecting Risk for Previously Undiagnosed Conditions

Medical Genome Reference Bank Uses Whole-Genome Sequencing to Add 4,000 Healthy Older Adults to Its Huge Database

The resulting genomic dataset may provide useful diagnostic insights that can be used by clinical laboratory and pathology professionals to learn how and why some people age with good health

Why do some seniors age in good health and other seniors suffer with multiple chronic conditions? A new genetic database is using whole-genomic sequencing (WGS) to answer that question in ways that may benefit medical laboratories.

Because of the rapid aging of populations in the United States and other developed nations throughout the world, there is keen interest in how to keep seniors healthy. In fact, developing effective lab testing services in support of improved senior health is one of the big opportunities for both clinical laboratories and anatomic pathology groups.

Until recent years, most clinical pathologists dealt primarily with lab tests that used specimens such as blood and urine. However, genetics researchers are using WGS to discover new causes for many chronic illnesses. And the tools these researchers are developing offer pathologists and clinical laboratories powerful new ways to help doctors diagnose disease.

One genetics study involved a collaboration between the Garvan Institute of Medical Research at the University of New South Wales (UNSW) and Monash University. The research, launched in 2012, resulted in a database called the Medical Genome Reference Bank (MGRB).

Through the use of WGS, the MGRB now features a huge database of thousands of healthy elderly people. The data it contains may enable pathology scientists to learn, from a genetic standpoint, why some people age healthfully while others do not.

The researchers published their work titled, “The Medical Genome Reference Bank: A Whole-Genome Data Resource of 4,000 Healthy Elderly Individuals. Rationale and Cohort Design,” in the European Journal of Human Genetics.

Finding New Applications for Genetic Data

According to the UNSW published study, “The MGRB is comprised of individuals consented through the biobank programs of two contributing studies … Each sample is from an individual who has lived to [greater than or equal to] 70 years with no reported history or current diagnosis of cardiovascular disease, dementia, or cancer, as confirmed by the participating studies at recent follow-up study visits.”

The researchers noted in their paper, “Aged and healthy populations are more likely to be selectively depleted of pathogenic alleles, and therefore particularly suitable as a reference population for the major diseases of clinical and public health importance.”

The MGRB plans to make its database openly accessible to the international research community through its website once all 4,000 samples have been sequenced. Currently, about 3,000 of the samples have been analyzed, as noted on the Garvan website, which is tracking the MGRB’s progress.

“The Medical Genome Reference Bank can tell us much about what it means to grow old but remain well, and is a powerful tool to help us deconstruct the genetics of common diseases,” said David Thomas, PhD (above), an NHMRC Principal Research Fellow, Director of The Kinghorn Cancer Center, and Head of the Cancer Division of the Garvan Institute in New South Wales, AU, in a statement reported by GenomeWeb. (Photo copyright: South West Sydney Research.)

Personal Genetic Data in Precision Medicine

“The integration of genomic knowledge and technologies into healthcare is revolutionizing the way we approach clinical and public health practice,” Caron M. Molster, et al, noted in, “The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future,” published in Frontiers in Public Health. Molster is Manager at the Health Department Western Australia in Perth, and lead author of the paper.

“Public health genomics has evolved to responsibly integrate advancements in genomics into the fields of personalized medicine and public health,” the researchers wrote.

The 100,000 Genomes Project in the United Kingdom is sequencing the genomes of people who have rare diseases and their families. Researchers all over the world are collecting genomic data with plans to use it in different ways, and on various chronic disease populations, in pursuit of precision medicine goals.

Molster and her co-authors noted the comparable development of genetic sequencing and precision medicine in their paper.

“Parallel to the developments in precision medicine has been the advancement of technologies that enable the production, aggregation, analysis, and dissemination of extremely large volumes of individual- and population-level data on genes, environment, behavior, and other social and economic determinants of health. These data have proven useful in finding new correlations, patterns and trends, particularly those involving complex interactions, in relation to diseases, pathogens, exposures, behaviors, susceptibility (risk), and health outcomes in populations,” they wrote.

According to Paul Lacaze, PhD, Head of the Public Health Genomics Program at Monash University, one of the challenges in interpreting whole-genome data in order to diagnose disease is “discriminating rare candidate disease-causing variants from the large numbers of benign variants unique to each individual. Reference populations are powerful filters,” he noted in the MGRB paper.

The MGRB database provides just such a powerful reference population, giving researchers who are studying specific diseases a tool for comparison.

Other Studies into Heathy Aging

Other initiatives to create datasets of genome information for specific populations also are underway. The Scripps Translational Science Institute (STSI) in La Jolla, Calif., has been studying healthy aging since 2007. That’s when STSI launched the Wellderly Study, according to a news release. As of 2016, they had sequenced the genomes of 600 study participants, as well as 511 samples for comparison from a study being conducted separately by the Inova Translational Medicine Institute, a paper in Nature noted.

Another effort being conducted in China involves a database called PGG.Population. These researchers seek to “create a comprehensive depository of geographic and ethnic variation of human genome, as well as a platform bringing influence on future practitioners of medicine and clinical investigators,” according to their 2018 paper published in Nucleic Acids Research.

In this case, rather than identifying common genomic variants among a specific population, such as the healthy elderly, the researchers are working to understand how genetic variations are distributed among specific populations. “The PGG.Population database documents 7,122 genomes representing 356 global populations from 107 countries and provides essential information for researchers to understand human genomic diversity and genetic ancestry,” wrote the researchers.

Each of these disparate datasets represents paths of investigation that could lead to a better understanding of personal and public health. As technologies continue to develop that enable scientists to sift through the massive amount of WGS data being generated, a clearer picture of what healthy aging at the genetic level looks like will likely emerge.

Precision medicine is leading to precision public health, and clinical pathology laboratories are important parts of the public health puzzle.

—Dava Stewart

Related Information:

Genome Sequencing Data from Thousands of Healthy Elderly People Now Available  

The Medical Genome Reference Bank: A Whole-Genome Data Resource of 4000 Healthy Elderly Individuals. Rationale and Cohort Design

The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future

Wellderly Study Suggests Link Between Genes That Protect Against Cognitive Decline and Overall Healthy Aging

Can Artificial Intelligence Diagnose Skin Cancers More Accurately than Anatomic Pathologists? Heidelberg University Researchers Say “Yes”

New study conducted by an international team of researchers suggests that artificial intelligence (AI) may be better than highly-trained humans at detecting certain skin cancers

Artificial intelligence (AI) has been working its way into health technology for several years and, so far, AI tools have been a boon to physicians and health networks. Until now, though, the general view was that it was a supplemental tool for diagnosticians, not a replacement for them. But what if the AI was better at detecting disease than humans, including anatomic pathologists?

Researchers in the Department of Dermatology at Heidelberg University in Germany have concluded that AI can be more accurate at identifying certain cancers. The challenge they designed for their study involved skin biopsies and dermatologists.

They pitted a deep-learning convolutional neural network (CNN) against 58 dermatologists from 17 countries to determine which was more accurate at detecting malignant melanomas—humans or AI. A CNN is an artificial network based on the biological processes that occur when neurons in the brain are connected to each other and respond to what the eye sees.

The CNN won.

“For the first time we compared a CNN’s diagnostic performance with a large international group of 58 dermatologists, including 30 experts. Most dermatologists were outperformed by the CNN. Irrespective of any physicians’ experience, they may benefit from assistance by a CNN’s image classification,” the report noted.

The researchers published their report in the Annals of Oncology, a peer-reviewed medical journal published by Oxford University Press that is the official journal of the European Society for Medical Oncology.

“I expected only a performance on an even level with the physicians. The outperformance even of the average experienced and trained dermatologists was a major surprise,” Holger Haenssle, PhD, Professor of Dermatology at Heidelberg University and one of the authors of the study, told Healthline. Anatomic pathologists will want to follow the further development of this research and its associated diagnostic technologies. (Photo copyright: University of Heidelberg.)

Does AI Tech Have Superior Visual Acuity Compared to Human Eyes?

The dermatologists who participated in the study had varying degrees of experience in dermoscopy, also known as dermatoscopy. Thirty of the doctors had more than five-year’s experience and were considered to be expert level. Eleven of the dermatologists were considered “skilled” with two- to five-year’s experience. The remaining 17 doctors were termed beginners with less than two-year’s experience.

To perform the study, the researchers first compiled a set of 100 dermoscopic images that showed melanomas and benign moles called Nevi. Dermoscopes (or dermatoscopes) create images using a magnifying glass and light source pressed against the skin. The resulting magnified, high-resolution images allow for easier, more accurate diagnoses than inspection with the naked eye.

During the first stage of the research, the dermatologists were asked to diagnose whether a lesion was melanoma or benign by looking at the images with their naked eyes. They also were asked to render their opinions for any needed action, such as surgery and follow-up care based on their diagnoses.

After this part of the study, the dermatologists on average identified 86.6% of the melanomas and 71.3% of the benign moles. More experienced doctors identified the melanomas at 89%, which was slightly higher than the average of the group.

The researchers also showed 300 images of malignant and benign skin lesions to the CNN. The AI accurately identified 95% of the melanomas by analyzing the images.

“The CNN missed fewer melanomas, meaning it had a higher sensitivity than the dermatologists, and it misdiagnosed fewer benign moles as malignant melanoma, which means it had a higher specificity. This would result in less unnecessary surgery,” Haenssle told CBS News.

In a later part of the research, the dermatologists were shown the images a second time and provided clinical information about the patients, including age, gender, and location of the lesion. They were again instructed to make diagnoses and projected care decisions. With the additional information, the doctors’ average detection of melanomas increased to 88.9% and their recognition of benign moles increased to 75.7%. Still below the results of the CNN.

These findings suggest that the visual pattern recognition of AI technology could be a meaningful tool to help physicians and researchers diagnose certain cancers.

“In the future, I think AI will be integrated into practice as a diagnostic aide, particularly in primary care, to support the decision to excise a lesion, refer, or otherwise to reassure that it is benign,” Victoria Mar, PhD, an Adjunct Senior Lecturer in the Department of Public Health and Preventative Medicine at Australia’s Monash University, told Healthline.

“There is the potential for AI technology to be integrated with 2D or 3D skin imaging systems, which means that the majority of benign lesions would be already filtered by the machine, so that we can spend more time concentrating on the difficult or more concerning lesions,” she said. “To me, this means a more productive interaction with the patient, where we can focus on appropriate management and provide more streamlined care.”

AI Performs Well in Other Studies Involving Skin Biopsies

This study is not the only research that suggests entities besides humans may be utilized in diagnosing some cancers from images. Last year, computer scientists at Stanford University performed similar research and found comparable results. For that study, the researchers created and trained an algorithm to visually diagnose potential skin cancers by looking at a database of skin images. They then showed photos of skin lesions to 21 dermatologists and asked for their diagnoses based on the images. They found the accuracy of their AI matched the performance of the doctors when diagnosing skin cancer from viewed images.

And in 2017, Dark Daily reported on three genomic companies developing AI/facial recognition software that could help anatomic pathologists diagnose rare genetic disorders. (See, “Genomic Companies Collaborate to Develop Facial Analysis Technology Pathologists Might Eventually Use to Diagnose Rare Genetic Disorders,” August 7, 2017.)

While many dermatologists read patient biopsies on their own, they also refer high volumes of skin biopsies to anatomic pathologists. A technology that can accurately diagnose skin cancers could potentially impact the workload received by clinical laboratories and anatomic pathology groups.

—JP Schlingman

Related Information:

Dermatologists Hate Him! Meet the Skin-cancer Detecting Robot

Man Against Machine: Diagnostic Performance of a Deep Learning Convolutional Neural Network for Dermoscopic Melanoma Recognition in Comparison to 58 Dermatologists

AI Better than Dermatologists at Detecting Skin Cancer, Study Finds

AI May Be Better at Detecting Skin Cancer than Your Derm

Deep Learning Algorithm Does as Well as Dermatologists in Identifying Skin Cancer

Genomic Companies Collaborate to Develop Facial Analysis Technology Pathologists Might Eventually Use to Diagnose Rare Genetic Disorders


New Regulations Have Been Imposed on Clinical Pathology Laboratories in Australia due to Concerns over Direct-to-Consumer Genetic Testing

Undergoing genetic testing also can impact the cost and availability of life insurance in Australia, not just for the person who underwent the testing, but for their families as well

Concerns about direct-to-consumer genetic testing have led to stricter regulatory requirements for Clinical laboratories that perform genetic tests in Australia.

Starting in July 2017, medical laboratories that perform genetic testing must have accreditation by the National Association of Testing Authorities (NATA). And their tests must meet performance standards established by the National Pathology Accreditation Advisory Council. Manufacturers must also obtain a conformity assessment certificate from the Therapeutic Goods Administration, the organization that regulates medical devices, medicines, blood, and tissue in Australia.

According to the Australian Law Reform Commission (ALRC), there are currently 220 deoxyribonucleic acid (DNA) diagnostic tests available in Australia. There are 44 different laboratories located throughout the country that perform those tests. A database of the available tests and labs is maintained by the Human Genetics Society of Australasia (HGSA).

However, Australian citizens are not limited to just the tests and labs listed by the HGSA. Direct-to-consumer genetic testing kits, which are marketed through retail outlets, mail order, and the Internet, also can be used to obtain genetic information. However, receipt of genetic test results can be problematic and have negative consequences, say some experts.

Genetic Tests Can Cause Confusion; Affect Insurance

A recent paper, authored by researchers at Monash University, outlined apprehension about home genetic testing and how it can have a negative impact on people’s lives and insurance rates. The authors claim the tests can be misleading, noting concerns that the results are often interpreted by people who lack proper training. They cautioned that providers in other countries are not subject to the strict laws that govern genetic testing in Australia. Monash University is Australia’s largest university with facilities and campuses in Australia, Malaysia, South Africa, China, India, and Italy.

“In the age of individuality and consumer empowerment, some people want to take things into their own hands, but that’s not without its risks,” stated Ken Harvey, MBBS (Bachelor of Medicine, Bachelor of Surgery), in a Special Broadcast Service (SBS) article. Dr. Harvey is an FRCPA (Pathologist) and Associate Professor in the Department of Epidemiology and Preventive Medicine at Monash University, and one of the authors of the paper. “If you’re getting something over the internet it can be really difficult to assess whether that test has been accredited by a reputable independent authority.”

DTC genetic test order increase

The chart above tracks the collective annual test volume of just three direct-to-consumer (DTC) providers of genetic test in the US. It illustrates the steep rise in DTC genetic test usage among US-based healthcare consumers. Clinical laboratories could chart a similar progression tracking the increase in DTC genetic testing they have performed in just the past few years. (Image copyright: University of Iowa Wiki.)

In addition, the results of home genetic tests have to be translated and explained to consumers by a medical professional, often a General Practitioner (GP), which, according to the Australian researchers, can lead to confusion.

“Though the results would go back to the GPs, many GPs really had no idea what to do with these results when they got them”, Harvey noted in the SBS article. “I’ve had GPs tell me one of their patients comes in clutching a handful of printouts about their genetic tests, and they say, ‘what am I meant to do with this?’”

Why Genetic Testing is Important

One person who understands the urge to try genetic testing is Heather Renton, Founder and President of Syndromes Without a Name (SWAN) Australia, a not-for-profit incorporated association and charity that works to increase awareness and understanding of the impact and prevalence of undiagnosed genetic conditions.

After being misdiagnosed multiple times, it was discovered that Renton’s daughter had the rare FOXP1 gene. Individuals with the FOXP1 genetic disorder have delayed speech and learning issues, sometimes with signs of autism. Symptoms of the condition include:

  • Speech and learning disabilities;
  • Immune system issues; and
  • Behavioral abnormalities.

“People are sometimes so desperate for answers, [but] who’s to know that it’s credible—you might think you’ve got this gene and it might turn out that you don’t,” Renton stated in the SBS article.

“You might have a gene susceptible to breast cancer the older you get, but as a 20-year-old you have no idea you’ve got that,” she continued. “Life’s a lottery game.”

Why Genetic Testing Can Cause Problems

Nevertheless, some individuals may not welcome the results that genetic testing could reveal.

“If you get one of these batteries of genetic tests, the implication is these are genetic conditions that can be inherited; the results are not just important or significant to you, but to your family members, your children, etc.,” Harvey stressed. “The implications go beyond a particular person—and not everyone wants to know.”

“For some families, it’s been life shattering to find out they’ve actually passed this condition on to their child, and they carry this guilt,” Renton added.

Genetic Test Results Can Affect Insurance Premiums/Availability

Results of genetic tests also could affect the costs and availability of life insurance policies in Australia that went into effect after July.

Under the Insurance Contracts Act, Australians applying for life insurance are required to disclose:

  • Their medical history;
  • Information about the health of first degree relatives (parents, siblings, and children); and
  • The known results of any genetic testing.

Life insurance policies in Australia are guaranteed renewable. This means consumers do not have to inform insurers of changes in their medical conditions after policies have been issued. It is forbidden for insurers to demand that consumers have any genetic testing performed. However, if a consumer has had a genetic test performed and knows the results before the policy is issued, those results must be divulged to the insurer. That information can then be used to determine policy rates or deny coverage.

Could This Happen In the US?

In the United States, some genetic testing is regulated by the Food and Drug Administration (FDA) under the processes that oversee medical devices. The FDA has proposed regulating laboratory-developed tests (LDTs), which would bring more genetic testing under the agency’s scrutiny. As direct-to-consumer genetic testing becomes more advanced and is marketed to the public, it is probable that regulatory oversight of labs performing these tests also will increase in an effort to protect the public. Thus, clinical laboratories and pathology groups are advised to monitor this situation in Australia.  Similar regulatory actions could be taken in the US as well.

—JP Schlingman

Related Information:

‘Not Everyone Wants to Know’: Warnings Over Genetic Tests

Warning Over Direct-to-Consumer Genetic Tests

Retail Genetics

Growth in DTC Genetic Testing

Thinking About Life Insurance Through a Genetic Lens

Life Insurance Products and Genetic Testing in Australia

British Health Authorities Criticize Medical Laboratory Tests for Consumers

Medical Laboratory Tests for Consumers Under Investigation on Two Continents