Research could lead to new biomarkers for clinical laboratory tests that spot disease early in patients
As we have covered in previous Dark Daily ebriefs, there are ongoing efforts to develop diagnostic assays that use human breath as the specimen. One early example was the breath specimen for Helicobacter pylori (H. pylori) testing—the bacteria that causes peptic ulcers—in the 1990s. Thus, a new sensor developed by scientists at Zhejiang University in China that can detect the presence of lung cancer in human breath will be of interest to medical laboratory scientists and clinical laboratories working on such testing.
In a proof-of-concept study, the Zhejiang University researchers “developed ultrasensitive nanoscale sensors that in small-scale tests distinguished a key change in the chemistry of the breath of people with lung cancer,” according to an American Chemical Society (ACS) news release.
The new research exemplifies how instruments are becoming increasingly sensitive to detection of smaller specimen quantities, making it possible to even use exhaled breath to diagnose lung cancer, noted a review article published in Science Direct.
“This study presents a novel Pt@InNiOx [platinum (Pt), indium (In), nickel (Ni)] nanoflake isoprene sensor that achieves an exceptionally low limit of detection at two parts per billion (2ppb)—the lowest reported for isoprene sensor to date,” wrote study lead author, Pingwei Liu, PhD (above), distinguished research fellow, Zhejiang University, et al, in ACS Sensors. “Our work not only provides a breakthrough in low-cost, noninvasive cancer screening through breath analysis but also advances the rational design of cutting-edge gas sensing materials.” Clinical laboratories working with breath sample biomarkers will be intrigued by this new advancement in the technology. (Photo copyright: Zhejiang University.)
Finding the Breakthrough Sensor
The Zhejiang University researchers were motivated by the potential for rapid gas sensing in diagnostics. Many gases, including carbon dioxide, are exhaled. But one particular gas, isoprene, they found “can indicate the presence of lung cancer,” the news release states.
However, while breath is readily available, it is not easy to isolate breath biomarkers. That is because a detector needs to “differentiate between volatile chemicals, withstand the natural humidity of exhaled breath, and detect tiny quantities of specific chemicals,” New Atlas explained.
To detect small specimen quantities of isoprene, a highly sensitive sensor needed to be developed—one that would be a step up from standard indium oxide-based breath sensors.
The scientists experimented with a series of indium (III) oxide (In203)-based nanoflake sensors until they found the sensor that performed consistently in nine experiments. They called it Pt@InNiOx for the platinum (Pt), indium (In), and nickel (Ni) it contained.
According to the news release, the Pt@InNiOx sensor:
Had “sensitivity that far surpassed earlier sensors” as evidenced by detection of isoprene as low as 2ppb.
Emphasized isoprene attraction over other volatile compounds in breath.
Has advanced sensitivity due to “Pt nanoclusters uniformly anchored on the nanoflakes” activating the isoprene sensing.
Gadget Review described the innovation as a “significant advance in diagnostic capability” that uses nanoscale technology along with “indium oxide nanoflakes with platinum-based nanoclusters.”
Developing the Lung Cancer Diagnostic Device
The scientists put their Pt@InNiOx nanoflakes into a portable sensing device for breath analysis. They then inserted breath samples from 13 people including five who had lung cancer. They found that:
In samples from people with cancer, the device enabled detection of isoprene levels lower than 40 ppb.
In samples from cancer-free participants, the device found isoprene levels more than 60 ppb.
“We integrate these ultrasensitive Pt@InNiOx nanoflakes into a miniaturized portable electronic device that successfully distinguishes lung cancer patients with expiratory isoprene below 40ppb, from the healthy population with isoprene above 60 ppb, enabling an accurate diagnosis in clinics,” wrote study lead author, Pingwei Liu, PhD, distinguished research fellow, Zhejiang University, et al, in ACS Sensors.
“As the isoprene hits the nanoflakes, electron release is sparked in a way that can be measured,” MSN Health reported, adding that the nanoflakes were also able to find isoprene in other chemicals and operate even in humid conditions.
Breath as Lab Test Biomarker for Cancer
In the United States, more people die from lung cancer than any other form of cancer, according to US Centers for Disease Control and Prevention statistics. The CDC data show there were 209,500 new lung and bronchus cancer cases in 2022, the most recent year for available data.
The Zhejiang University scientists reportedly plan to continue their research on the sensing materials and link between isoprene and lung cancer.
Studies continue to show many components in human breath can be used as clinical laboratory test biomarkers. Assays that use the breath as specimen may one day play an important role in early diagnosis of lung cancer and other diseases.
Researchers find neanderthal blood did not evolve and may have contributed to their demise
Researchers out of France have identified a unique antigen in red blood cells that may have contributed to the downfall of Neanderthals, according to an article in Live Science. These findings will be of interest to clinical laboratorians in hospitals who operate blood banks and blood bankers who do daily testing for blood groups and specific antigens.
“We showed that all Neanderthal shared the same blood group profile,” Mazières told Discover magazine. “Such low diversity is the signal of small populations.” He added, “the study shows how different blood types can help fight against infectious disease,” and that, “it emphasizes the importance of monitoring blood during both transfusions and pregnancies. The presence of some rare subtypes that originated with the Neanderthals but outlived them can lead to complications,” Discover reported.
Clinical laboratories and pathologists will appreciate these new findings, as this unique look into Neanderthal physiology illustrates how the importance of proper blood typing has endured throughout time.
“For any case of inbreeding of a Neanderthal female with a Homo sapiens or Denisova male, there is a high risk of hemolytic disease of the newborn. The condition can lead to jaundice, severe anemia, brain damage and death. This could have contributed to the demise of the Neanderthal population,” Stéphane Mazières, PhD (above), a population geneticist at Aix-Marseille University who led the study into why Neanderthals did not survive, told Live Science. Clinical laboratories that run blood banks and perform blood type testing will find the study results interesting. (Photo copyright: X, formerly Twitter.)
‘Incompatible Blood Type
Mazières’ team studied ancient genomes to further understand the evolution from Neanderthals and Denisovans to Homo Sapiens. Genome sequencing was used to look at blood groups from “dozens of people who lived between 120,000 and 20,000 years ago.” This uncovered “a rare blood group that could have been fatal to their newborns,” Live Science reported.
The rare blood type discovered was not compatible with either Denisovans or early Homo Sapiens. Additionally, the more diverse blood found in Homo Sapiens may have attributed to a more robust immunity, Discover reported.
“Nowadays, certain blood groups confer an advantage against pathogens such as cholera, malaria, one of the gastroenteritis viruses and, as we’ve seen recently, COVID. We can therefore imagine that the blood groups found in the first Sapiens may have equipped them with a new arsenal to face the new environments encountered as they spread across the world,” Mazières told Discover.
“The contribution of this study is twofold. It enlightens the expansion patterns of Homo Sapiens and recalls the anthropological effectiveness of genetic polymorphisms currently being surveyed for transfusion safety and pregnancy monitoring,” the researchers wrote in Scientific Reports.
Knowing a patient’s blood type is key to ensure immune system acceptance of the blood, leading to successful blood transfusions and preventing fatalities. Focus is given to Rh (Resus) factor’s positive and negative typing and on the antigens responsible for segregating A, B, and O blood types. In the case of Neanderthals, a look at red blood cells was key, Live Science noted.
Modern-day Rh incompatibility, which can occur when an Rh-negative woman is pregnant with an Rh positive fetus, can be discovered during pregnancy and treated with prenatal administration of lab-made immunoglobulin to prevent hemolytic disease of the newborn, Live Science reported. It’s a whole system of healthcare that was certainly not available in Neanderthal times.
“Neanderthals have an Rh blood group that is very rare in modern humans. This Rh variant—a type of RhD, another red blood cell antigen—is not compatible with the variants the team found in the Denisovans or the early Homo Sapiens in their study,” Mazières told Live Science.
Looking Ahead
While this research may not change the way blood is handled today, the new findings serve as a reminder of just how important and varied antigens in human blood type can be and how significant the variances impact individuals. It also provides a window into how subtle differences shape the way civilization grows.
The complexity of red blood cells remains an area worthy of continued research, especially since many of these surface and internal antigens are passed down through generations, Live Science noted.
Also, study results may further the decades-long attempt to create artificial blood that has both an extensive shelf life and is accepted by the immune systems of many different patients. However, that will be a daunting challenge. Over the decades, blood bankers and clinical laboratory scientists have watched many attempts to develop artificial blood come close but fail to demonstrate safety while delivering benefits to patients.
Researchers find genome sequencing identified conditions missed by standard newborn screening programs that use common clinical laboratory tests
Interim results from a large ongoing pilot study suggest that genome sequencing of newborn children may be more effective than traditional clinical laboratory screening for detection of early-onset genetic conditions. The researchers also found that parents were highly receptive to the idea of performing the sequencing on their newborns.
“The results show us that genome sequencing can radically improve children’s medical care,” said study co-author Joshua Milner, MD, chief of allergy, immunology, and rheumatology services at NewYork-Presbyterian/Columbia University Irving Medical Center, in a Columbia University press release.
“Genome sequencing allows us to detect things that cause serious illness and take action to prevent those illnesses in a significant number of children, not just a few rare cases. It should be instituted as the next standard for newborn screening because it can detect so much more than current methods,” said study co-author Joshua Milner, MD (above), chief of allergy, immunology, and rheumatology services at NewYork-Presbyterian/Columbia University Irving Medical Center, in a press release. Study finding suggest genetic sequencing can be more effective than clinical laboratory screening tests for early detection of genetic disorders. (Photo copyright: Columbia University.)
GUARDIAN Study Details
For the pilot study, the researchers sought consent from 5,555 families, with 4,000 (72%) agreeing to participate. The babies studied were born between September 2022 and July 2023. At that time, the researchers screened for 156 treatable conditions. Parents could also choose to add a panel of 99 neurodevelopmental disorders that do not have treatments, but where “affected children may benefit from early intervention,” the press release notes.
The total—255 genetic tests—included the 50 conditions in the standard Newborn Screening Program as a quality control, principal investigator Wendy Chung, MD, PhD, told Healio.
Among the 4,000 participants, 147 children (3.7%) screened positive for one of the conditions. Further testing confirmed diagnoses in 120 children. “Only 10 of these children were detected through standard screening,” the Columbia press release states.
The vast majority—92 of 120 children—were diagnosed with glucose-6-phosphate dehydrogenase (G6PD) deficiency. “G6PD is not included in traditional screening but individuals with G6PD deficiency can have moderate to life-threatening reactions to certain foods and medications which can easily be prevented by avoiding them,” the press release notes.
Screening for Previously Unscreened Treatable Disorders
The New York State Department of Health mandates free Newborn Screening (NBS) in which a blood sample is collected for testing, generally 24 to 36 hours after birth. The test screens for 50 disorders.
Genome sequencing, however, “offers an additional method to improve screening for conditions already included in NBS and to add those that cannot be readily screened because there is no biomarker currently detectable in dried blood spots,” the GUARDIAN researchers wrote in JAMA.
In the GUARDIAN study, families planning to give birth at an NYP hospital can authorize the researchers to perform genome sequencing of the same dried blood spots to screen for additional pre-selected genetic conditions. At present, the study screens for more than 450 conditions, according to the study website.
“It would be prohibitive to screen for all these diseases with standard testing, but with genomic screening, there’s minimal extra cost when adding a condition,” said study co-author Jordan Orange MD, PhD, chair of pediatrics at Columbia University’s Vagelos College of Physicians and Surgeons and physician-in-chief of NewYork-Presbyterian’s Morgan Stanley Children’s Hospital, in the Columbia press release. “We can screen for treatable disorders that we never thought of screening for before.”
GeneDX, which performs the genomic sequencing for GUARDIAN, issued a press release in which it listed other conditions that are not part of the standard screening. These include Long QT syndrome, which the company described as “a rare heart condition that may cause Sudden Infant Death Syndrome (SIDS) and can be treated with beta-blockers.”
GUARDIAN also detected conditions that came up as false negatives in the standard screening, Chung told Healio. One baby had a genetic variant that causes severe combined immunodeficiency disorder (SCID), a rare and often-fatal condition. Chung said that the genomic sequencing identified the condition while the standard newborn screening missed it.
“We know that a bone marrow transplant is a cure for these children, but safety and success are the highest when the transplant occurs in the first few months of life, before the child starts developing infections or other symptoms,” Milner said in the Columbia press release. “Only because of the genomic screening were we able to identify this child in time.”
Excluding the G6PD cases, the positive screening rate was 0.6%, twice the rate of standard screening. As of last November, more than 12,000 babies had been enrolled in the study. The researchers hope to enroll 100,000.
Advances in Genomic Sequencing Bring Benefits to NBS
“In my practice, I’ve seen many patients who’ve spent years going from doctor to doctor with symptoms that no one can explain. But by the time they receive a diagnosis, the window to best manage the disease has usually passed,” said Chung in the Columbia University press release.
Looking ahead, Chung told Healio that she’d like to expand outside of New York, “in part for generalizability to demonstrate that this is something that could be done with our national public health newborn screening system.”
She’d also like to cut the turnaround time from the current three weeks to one week, she said. And she’d like to drive down the cost.
“Families and pediatricians don’t need to go through those diagnostic odysseys anymore with the genomic technology we now have. We can make the diagnosis at birth,” she said.
The GUARDIAN study shows how advances in genetic testing are moving fast enough that the point has been reached where the classic clinical laboratory methodologies for newborn screening used for decades are becoming outmoded because of the superior performance/cost of genome sequencing.
Study is first solid evidence that introduction of HPV vaccines may be a factor in the reduction in rates of cervical cancer among those who were vaccinated nearly 20 years ago
This success story confirms that a better understanding of what causes cervical cancer—when combined with the development of clinical laboratory tests that detect the HPV virus—were key developments in the fight against this deadly disease.
The study, led by cancer population scientist Ashish Deshmukh, PhD, epidemiologist, professor of public health sciences and co-leader of the cancer control program at the Hollings Cancer Center (HCC) at MUSC, found the connection between the decline in cervical cancer rates and the adoption of the HPV vaccine.
Pathologists and clinical laboratory managers will want to monitor the worldwide effort to eradicate cervical cancer, as many countries focus their efforts on HPV vaccine compliance. The scientists published their findings in the Journal of the American Medical Association (JAMA) titled, “Cervical Cancer Mortality among US Women Younger than 25 Years, 1992-2021.”
“We had a hypothesis that since it’s been almost 16 years, that maybe we might be starting to see [the] initial impact of HPV vaccination on cervical cancer deaths, and that’s exactly what we observed,” Ashish Deshmukh PhD (above), epidemiologist and professor of public health sciences at Medical University of South Carolina in Charleston, told Science News. The MUSC study provides important findings for clinical laboratories and anatomic pathologists providing vaccinations against Human Papillomavirus. (Photo copyright: Medical University of South Carolina.)
MUSC Study Details
Deshmukh’s team examined cervical cancer mortality rates of women younger than 25 from 1992-2021. The team divided data into 3-year periods, noting a “gradual decline in cervical cancer deaths of almost 4%” which brought deaths to .02 per 100,000 people from 2013-2015, Science News reported, adding that the researchers speculated that the “steady drop might be due to improved prior prevention and screening methods for cervical cancer.”
The death rate for cervical cancer continued to trend downward with “a dramatic reduction in mortality over just 60%,” arriving at .007 deaths per 100,000 according to the 2019-2021 data, Science News continued.
In their JAMA article, the MUSC researchers noted a continued positive shift toward lower cervical cancer rates beyond 2021, with a 12% per year decline and 65% reduction overall.
“They’re seeing this precipitous drop in mortality at the time that we would be expecting to see it due to vaccination,” Emily Burger, PhD, professor at the University of Oslo and research scientist at Harvard T.H. Chan School of Public Health told Science News. “Ultimately, we hope we are preventing mortality and death [with the introduction of vaccines], and this study is really supporting that conclusion.”
Nonetheless, a definitive connection to the HPV vaccine was not possible to determine “because it’s unclear whether the women in the study cohort were, in fact, vaccinated,” Science News reported.
Development of the PAP Smear
Cervical cancer was first discovered in 1886. At that time pathologists relied on “examination of tissue biopsies derived from an observable lesion,” LabTAG noted. It was George Papanicolaou, PhD—considered to be the father of cytology—who determined in 1943 that more could be observed via a surface biopsy under a microscope. The Pap Smear was born.
The Pap Smear, for which wider screening began in the US in the late 1950s and 1960s, began to reduce deaths from cervical cancer by the 1990s. But women who did not get an annual pap were the ones generally to be diagnosed with advanced cervical cancer.
By the 1990s, pap smear testing was a major business for clinical laboratories and pathology groups. Fifty-five million pap tests were done annually in the 1990s.
In 2004, clinical laboratories began HPV testing. Then came the HPV vaccine. Introduced in 2006, HPV vaccine programs focused on 12-15 year-old girls with hopes of preventing cervical cancer.
Clinical laboratories in the US today perform many fewer Pap smear tests.
While efforts overseas appear to focus on HPV vaccine requirements, the US has been hesitant to do the same. The District of Columbia, Hawaii, Virginia, and Rhode Island are the only states to require it by grade seven, Immunize.org notes. Various reasons have kept it from being required in the US, including fear that it might encourage sexual activity in teens.
There is hope that, with a larger focus on cervical cancer, more deaths can be prevented since the cancer itself is slow growing. “When we look at HPV vaccination coverage in the US, we haven’t reached our goal. We have to do better in terms of improving vaccination rates,” Deshmukh told Science News.
As scientists continue to gain a better understanding of causes and prevention of cervical cancer, new clinical laboratory tests may be developed to detect HPV. Thus, lab managers will want to stay in touch with current research as it will surely impact the testing performed by labs in the future.
Plan offers members transparent pricing for medications and 24/7 virtual consults
Amazon is working to be price competitive in the healthcare products and services it provides. A recently launched plan offers Prime members fixed prices and affordable monthly rates for telehealth visits, treatment plans, and medication delivery for various types of health, beauty, and lifestyle care. Healthcare providers such as office-based physicians, clinical laboratories, and anatomic pathology groups, may once again be impacted by Amazon’s foray into medical care.
This is not the first time that Amazon (NASDAQ:AMZN) has waded into the medical pond. In 2022, the Seattle-based ecommerce company purchased One Medical (NASDAQ:ONEM) for $3.9B while at the same time launching Amazon Clinic (now known as Amazon One Medical Pay-per-visit), a virtual healthcare service, in an attempt to “reinvent” healthcare. Dark Daily covered these events in an ebrief at that time.
Since then, Amazon has offered pay-per-visit telehealth consultations to determine treatments for more than 30 common ailments such as pink eye (conjunctivitis), flu, and sinus conditions. Now, Amazon is adding “low, clear upfront pricing for a clinical visit, treatment plan, and fast, free medication delivery for Prime members for a range of common health, beauty, and lifestyle concerns, including anti-aging skincare treatment, men’s hair loss, erectile dysfunction, eyelash growth, and motion sickness,” according to an Amazon news release.
“We’re committed to giving customers convenient, affordable care options that put them in control of their health,” said Bergen Penhart, general manager for Amazon One Medical Pay-per-visit, in the news release. “This new offering makes it easy for Prime members to get expert clinical advice and prescribed treatments for common health, beauty, and lifestyle needs, all from the comfort of home.”
The platform supports both on-demand messaging and virtual video telehealth visits to address more than 30 common medical issues.
“This simple care experience was built to meet the needs of today’s customer. At Amazon, we’re working to reduce the burden on patients who’d like to move forward with care, but may be tired of navigating the hurdles of our healthcare system, waiting in a long line at the pharmacy, or worried about a surprise bill or medication cost,” said Harvard-trained lung specialist and chief medical officer for Amazon, Vin Gupta, MD (above). “We’re helping patients re-engage in care and spend time doing what they love instead.” These new medical initiatives from Amazon are meant to be convenient for patients, but have an impact on local healthcare providers, clinical laboratories, and pharmacies. (Photo copyright: Vin Gupta, MD.)
Convenience, Transparency, 24/7 Access to Healthcare
Telemedicine has seen a sharp rise in recent years, aided by necessity during the COVID-19 pandemic. Forbes reports that the percentage of hospitals offering telemedicine rose to 72% in 2021. Since so many Americans today use the Internet for everything from shopping for medications to interfacing with healthcare providers, it makes sense that Amazon, one of the world’s most successful online retailers, would want a cut of the action.
So what is the retail giant offering now that improves upon its previous healthcare services? It is promoting fixed prices and monthly payments with complete transparency. There are also no surprise bills for Amazon One Medical patients. Prime members can see the price for their telehealth consultation and prescription before deciding whether to go forward with the appointment and treatment.
In addition, Amazon One Medical patients can use a smartphone app (available on both Android and Apple iPhone) to review prices for treating five common health conditions and beauty treatments, as well as meeting virtually with a clinician 24/7 from anywhere in the world. In some areas Amazon even offers same-day or next-day medication deliveries.
“This simple, upfront pricing helps customers shop for their healthcare and make informed, confident decisions. Customers only pay for the cost of the consultation and medication (if prescribed). There are no additional fees, expenses, or subscriptions needed beyond Amazon Prime,” the news release states.
First Wrongful Death Lawsuit Filed against Amazon One Medical
However, the road to success in healthcare is not without its potholes. In “Amazon One Medical Call Centers Found Wanting in Washington Post Report,” we covered a 2024 Washington Post story on leaked documents that appeared to indicate Amazon’s One Medical primary care call center was not using trained, certified medical professionals to field patient phone calls and provide telehealth guidance.
This led to disappointment among Amazon One Medical patients, we reported.
According to The Washington Post, Amazon bought One Medical and hired workers for their call centers with “limited training and little to no medical experience.” This allegedly caused serious medical issues such as high blood pressure spikes and blood in stool to go unrecognized.
Caroline O’Donovan, the Washington Post reporter who broke the story, told PBS, “In the documents that were leaked to us, there’s a doctor who wrote a note saying, ‘I don’t think these call center people even realize that they’re triaging patients, which is not something that they’re qualified to do.’”
Amazon acknowledged that initial calls could have been handled more effectively, however the company insisted that no patients were harmed. In an email statement, Amazon spokesperson Dawn Brun said, “We take patients’ feedback seriously and the [Washington Post] story mischaracterizes the dedication we have to our patients and care teams.”
Nevertheless, Amazon One Medical now faces a lawsuit. The Daily Mail reported that Suzanne Tong of Oakland, Calif., is suing Amazon for negligence after her husband died following a video consultation during which he was told to “take an inhaler” for symptoms that included shortness of breath and blue feet.
“Hours later, the 45-year-old was rushed to the emergency department at the Alta Bates Summit Medical Center, where [according to court documents] he ‘collapsed in the waiting room and expired,’” The Daily Mail reported, adding, “The [court] filing claims that ‘to a reasonable degree of medical certainty,’ if Mr. Tong had received the ‘proper care, treatment and follow up’ at his appointment with Amazon One Medical on December 18, 2023, he would have survived.”
Amazon would not comment on the impending litigation citing patient privacy concerns, instead providing a statement to the press. In it, an Amazon One Medical spokesperson said, “While we are prohibited by law from discussing patient records, we refute claims that a change in the duration of visits or location of a virtual visit has impacted the care provided at Amazon One Medical,” the Los Angeles Times reported. “We care deeply about every patient we serve, and the quality and safety of our care are our highest priorities. We’re proud of our extensive quality and safety measures, and of the health outcomes we help our patients achieve. We take concerns about our care extremely seriously, and we’re committed to continuous improvement.”
According to The Daily Mail, this is the first wrongful death lawsuit brought against Amazon One Medical.
Warning to Clinical Labs, Pathology Groups
Stories like these raise questions as to whether the quality of care delivered by various telehealth services is being sacrificed for the sake of convenience and price transparency. Americans are increasingly living more online. Medical services moved online out of necessity, and many healthcare providers who stayed online have expanded their offerings due to customer demand.
Clinical laboratories and anatomic pathologists would be wise to stay informed on this growing trend. These business launches are a warning shot for lab managers and pathology groups to invest time and money becoming more patient/consumer friendly providers with websites that feature price transparency.
Requirement reflects increasing worldwide focus on preventing genetic disorders through clinical laboratory genetic testing
In a significant move, Abu Dhabi’s Department of Health has established a new policy that requires engaged couples to get genetic testing done along with clinical laboratory blood testing before walking down the aisle.
Abu Dhabi, the capital city of the United Arab Emirates (UAE), is following an established public health policy of testing soon-to-be-married couples for specific disease conditions. Now, however, instead of just infectious diseases, it is testing for specific genetic conditions as well.
This marks a first for Arab nations and also demonstrates a shift in the standard of care for those regions.
“Abu Dhabi continues to set a global standard in proactive healthcare, marking a significant paradigm shift from traditional and reactive healthcare to informed and holistic health planning and decisions,” said Asma Al Mannaei, DrPH, Director of Health Quality and Executive Director of the Research and Innovation Center at Abu Dhabi Department of Health (DOH), in a press release.
Clinical laboratory managers and pathologists in the US will note that the move in Abu Dhabi mirrors a similar trend in this country. A growing number of children’s hospitals are using genetic testing such as rWGS (Rapid Whole Genome Sequencing) as a pro-active screen for newborns where family history indicates the value of such testing.
It appears the use of genetic testing as a way of predicting risk for genetic disorders is growing in popularity across the globe.
“The integration of genetic testing as part of the premarital screening program is a proud milestone for Abu Dhabi. It positions the Emirate at the forefront of leading healthcare destinations globally, harnessing the power of genomics and latest technologies to promote informed decisions,” said Asma Al Mannaei, DrPH (above), executive director of the Research and Innovation Center at Abu Dhabi’s Department of Health, in a press release. “This step aims to prevent the transmission of genetic diseases to children and elevate early intervention through different phases including diagnostic, tailored genetic counselling, and introducing reproductive medicine solutions for couples.” (Photo copyright: Global Medical Tourism Summit.)
Why Screen for Genetic Disorders?
Pre-screening betrothed couples isn’t a new concept. The US previously required blood tests prior to marriage primarily to spot diseases such as Rubella (a.k.a., German Measles). The nationwide program was eliminated in 2019 for a variety of reasons including the fact that “the mandated blood tests worked to discourage marriage while doing little to actually identify people with disease or improve public health,” the Mises Institute noted at the time.
However, things are different in Middle East nations where consanguinity—when a couple shares a blood relative—is a common cultural norm. It’s not unusual in those regions for first cousins to marry and have children, which can lead to genetic complications.
“If a couple are consanguineous (related) their children have a higher chance of being affected by autosomal recessive genetic disorders. These only occur if a child has a mutation (change) in both copies of a particular gene pair,” according to Top Doctors.
This is where Abu Dhabi’s new genetic testing requirement comes in.
Making Informed Decisions for Future Families
Just like in the US, Abu Dhabians have been blood screening couples for infectious diseases for decades. Genetic testing as part of premarital screening was added at the end of 2024, a report from the Abu Dhabi Public Health Center (ADPHC) noted.
Screening is available at 22 primary healthcare centers throughout Abu Dhabi and the Al Dhafra and Al Ain regions.
“The comprehensive genetic testing list includes 570 genes that cover 840+ genetic disorders. It is important because it can help couples assess the risk of having children with genetic disorders and support them in making informed decisions about family planning,” the ADPHC stated in its report.
Dark Daily in the Middle East
It seems inevitable that in time genetic testing for engaged couples would eventually become a requirement.
Abu Dhabi’s DOH partnered with Abu Dhabi Public Health Center (ADPHC) to launch a pilot of the genetic testing program back in 2022. It screened more than 800 couples and found that 86% showing “genetic compatibility.” The other 14% received test results that required them to obtain more advanced family planning and intervention, the ADPHC reported.
As consanguinity is a common practice in many areas of the Middle East, other nations and Emirates may follow Abu Dhabi in requiring couples to undergo genetic testing. In the US, it would be prudent for clinical laboratories to watch growing trends as more couples opt for extra testing to provide best possible outcomes for their future families.
