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.
New technique could allow emergency responders to determine severity of LVO stroke while patient is still in the ambulance
Researchers at Brigham and Women’s Hospital in Massachusetts say they have developed a clinical laboratory test that can quickly determine whether a patient is experiencing one of the deadliest types of strokes, known as an ischemiclarge vessel occlusion (LVO) stroke. The development team believes this new assay could be deployed as a point-of-care test to enable faster diagnosis of stroke events.
The test combines measurement of two blood plasma biomarkers with an established clinical score used by clinicians and EMS personnel to assess stroke severity. Compared with current approaches, their technique more accurately differentiates LVO strokes from other types of strokes, making it more likely that patients receive appropriate treatment in a timely manner, the researchers said in a Brigham news release.
Dark Daily has long predicted that advances in technology and computing power would make it possible for pathologists and clinical laboratory scientists to combine multiple established biomarkers (individually not associated with the disease state targeted) with other clinical and patient data to create the ability to make an accurate and earlier diagnosis.
Ultimately, Brigham’s research could “aid in the development of a point‐of‐care diagnostic test capable of guiding prehospital LVO stroke triage,” wrote Joshua Bernstock, MD, PhD, Clinical Fellow in Neurosurgery at Brigham and Women’s Hospital, lead author of the study, and colleagues.
“We have developed a game-changing, accessible tool that could help ensure that more people suffering from stroke are in the right place at the right time to receive critical, life-restoring care,” said Joshua Bernstock, MD, PhD (above), Clinical Fellow in Neurosurgery at Brigham and Women’s Hospital and lead author of the Brigham study that developed the clinical laboratory test that the researchers say can enable emergency caregivers to determine quickly and accurately if a patient is having an ischemic large vessel occlusion (LVO) stroke. (Photo copyright: Brigham and Women’s Hospital.)
Early Identification of LVO Stroke
As explained in the news release, an LVO stroke is a type of ischemic stroke caused by obstruction in a major brain artery. The researchers noted that LVO strokes account for “62% of poststroke disabilities and 96% of poststroke death.”
These strokes are readily treatable using endovascular thrombectomy (EVT), in which the blockages are surgically removed, the news release note. However, the researchers observed that EVT “requires specialized teams and equipment, limiting its availability to comprehensive stroke centers and other EVT‐capable centers.”
This can lead to delays as patients are transferred to those facilities, worsening outcomes and increasing the risk of death, the researchers wrote in Stroke: Vascular and Interventional Neurology. So, early identification of LVO stroke is key to ensuring patients receive timely treatment.
Identifying False Negatives/Positives
One challenge, the news release notes, is that brain bleeds (hemorrhagic stroke) can present similar symptoms, yet require “vastly different” treatment.
“A growing body of work has, therefore, evaluated prehospital stroke assessment scales in an effort to identify LVO strokes in the field,” the researchers wrote. “However, such severity scales lack the sensitivity and specificity required for triaging LVO patients with confidence, resulting in false negatives in patients with LVO as well as false positives in patients with stroke mimics or hemorrhagic stroke.”
As explained by EMS Aware, these assessment scales, such as FAST-ED (field assessment stroke triage for emergency destination) and RACE (rapid arterial occlusion evaluation), attempt to determine the severity of a stroke by assigning scores based on symptoms such as facial palsy, arm weakness, and speech difficulties.
To develop their test, Bernstock and colleagues proposed combining the scales with measurement of two blood proteins:
In their study, they attempted to validate cutoff values for the biomarkers and scales.
To do so, the researchers analyzed data from 323 patients admitted to a Florida hospital with suspected stroke between May 2021 and August 2022. Each was assigned to one of four diagnostic categories based on clinical data from their medical records, which included results of computed tomography (CT scan) or magnetic resonance angiography (MRA). The diagnostic categories included:
The patients were assessed using five stroke severity scales. The researchers used frozen blood samples from the patients to measure the biomarkers. They then used this data to determine the likelihood of LVO stroke and compared the results with the diagnoses as determined by the clinical data.
“Combinations of the blood biomarkers with the scales FAST‐ED or RACE showed the best performance for LVO detection, with a specificity of 94% (for either scale combination) and a sensitivity of 71% for both scales,” the researchers wrote.
Sensitivity was higher in patients who presented within the first six hours from onset of symptoms.
“Critically, application of the biomarker and stroke scale algorithms ruled out all patients with hemorrhage,” the researchers wrote. However, they also suggested that their algorithm could be adjusted to enable early identification of hemorrhagic stroke.
The researchers noted that they chose biomarker cutoffs to maximize specificity, so “a certain number of LVOs are missed. However, as such patients default into ‘standard‐of‐care’ triaging pathways, such a decision is unlikely to represent much clinical risk.”
Testing in the Field
The Brigham researchers used established biological biomarkers combined with modern computing—in combination with the scores from a field assessment test—to develop their new clinical laboratory test that identifies the type of stroke.
Their next step is to carry out “another prospective trial to measure the test’s performance when used in an ambulance,” the news release states. “They have also designed an interventional trial that leverages the technology to expedite the triage of stroke patients by having them bypass standard imaging and move directly to intervention.”
“In stroke care, time is brain,” Bernstock said. “The sooner a patient is put on the right care pathway, the better they are going to do. Whether that means ruling out bleeds or ruling in something that needs an intervention, being able to do this in a prehospital setting with the technology that we built is going to be truly transformative.”
More research and clinical studies are needed. However, the fact that the Brigham team wants to deploy this approach in ambulances is an indication that there is high clinical value from this approach.
Clinical pathologists and medical laboratory managers will want to watch the ongoing development and deployment of this new assay, whether it is run in near-patient settings or core clinical laboratories in support of patients presenting in emergency departments.
Judge will decide the restitution Holmes must pay to defrauded Theranos investors at future court date; Ex-COO Ramesh “Sunny” Balwani to be sentenced next month
Clinical laboratory leaders and anatomic pathologists who closely followed the fraud trial of Elizabeth Holmes may have wondered how the Theranos founder and ex-CEO would be punished for her crimes. Now we know.
Late into the four-hour sentencing hearing, Holmes tearfully spoke, according to a twitter post by NBC reporter Scott Budman, who was in the courtroom. “I am devastated by my failings,” Holmes said. “I have felt deep pain for what people went through because I have failed them … To investors, patients, I am sorry.”
Davila ordered Holmes to surrender to authorities on April 27 to begin her time behind bars. She is free until that time. Her upcoming prison term caps off one of the biggest downfalls ever of an American entrepreneur.
Elizabeth Holmes (above), founder and former CEO of Theranos, the now defunct clinical laboratory company, as she enters the federal courthouse in San Jose, Calif., prior to her sentencing on Friday. In January, Holmes was convicted on three counts of wire fraud and one count of conspiracy. Last summer, Theranos’ former CLIA laboratory director, pathologist Adam Rosendorff, MD, expressed remorse over his testimony which led to Holmes’ defense team requesting a new trial. The judge denied that request and allowed the sentencing of Holmes to proceed as scheduled. (Photo copyright: Jim Wilson/The New York Times.)
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Defense Lawyers Plan to Appeal
Dean Johnson, JD, a California criminal defense lawyer, told NBC Bay Area News during live coverage of the hearing on Friday that Holmes’ defense team will appeal her conviction.
“I have no doubt there will be an appeal in this case,” Johnson said.
Judge Edward Davila, who oversaw Holmes’ trial and sentencing hearing in US District Court in San Jose, Calif., estimated that the total loss for Theranos investors was $121 million. Investors had committed funds to support the company’s flawed Edison blood testing technology. A separate restitution hearing for Holmes will be scheduled for a later date.
Beyond the sentencing, Holmes, 38, will be saddled by infamy for the rest of her life, with her past reputation as a charismatic innovator ruined.
“The judge [said] evidence shows Elizabeth Holmes was leader of the company, but not necessarily the leader of the criminal acts,” Budman tweeted. Those words clearly pointed to Balwani, who Holmes’ defense team had painted as exerting control over her and the company.
Prosecutors Sought a Stiffer Sentence for Holmes
Prosecutors had asked Davila to sentence Holmes to 15 years in prison, arguing that her conviction represented “one of the most substantial white collar offenses Silicon Valley or any other district has seen,” according to NBC Bay Area News, which cited court documents. The government also wanted her to pay $803 million in restitution.
Holmes’ defense team, however, wished for no prison time at all, instead asking that Holmes serve time under house arrest. “If a period of confinement is necessary, the defense suggests that a term of 18 months or less, with a subsequent supervised release period that requires community service, will amply meet that charge,” her lawyers wrote in a court filing.
Prior to the sentencing, Davila received 130 letters supporting Holmes and asking for leniency, NPR reported. Among them was a note from William “Billy” Evans, Holmes’ partner.
“If you are to know Liz, it is to know that she is honest, humble, selfless, and kind beyond what most people have ever experienced,” Evans wrote, NPR reported. “Please let her be free.”
Holmes and Evans have a 16-month-old son together, and she is pregnant with the couple’s second child. Her first pregnancy caused her trial to be rescheduled. Prior to last week’s sentencing, some reporters covering the trial speculated that because Holmes was the mother of an infant—and now pregnant again—the judge might be more lenient in sentencing. The 11-year, four-month sentence indicates that the judge was not much influenced by that factor.
Last Minute Pitch for New Trial Failed
Holmes’ legal wranglings continued until the very end.
However, Rosendorff later told the court that he stood by his testimony about problems with Theranos’ blood testing technology.
In denying the request for a new trial, Davila wrote, “The court finds Dr. Rosendorff’s statements under oath to be credible,” according to The Washington Post.
From Teen Founder to Disgraced Entrepreneur
Holmes founded Theranos in 2003 at age 19 while she was attending Stanford University as a chemical engineering major. She dropped out of Stanford as a sophomore to focus on her new company.
Theranos claimed its technology—known as Edison—could perform diagnostics tests using a finger prick and a micro-specimen vial instead of a needle and several Vacutainers of blood. The company said it could return results to patients and clinicians in four hours for about half of the cost of typical lab test fees.
However, the promise of this technology began to unravel in 2015 following an investigative article by The Wall Street Journal that revealed the company ran only a handful of tests using its technology, instead relying on traditional testing for most of its specimen work.
Following The Journal’s exposé, the Centers for Medicare and Medicaid Services (CMS) sanctioned Theranos and Holmes in 2016. Meanwhile, the US Securities and Exchange Commission (SEC) investigated Holmes for raising hundreds of millions from investors by exaggerating or making false statements about the company’s technology and financial performance.
In 2018, the US Department of Justice (DOJ) indicted Holmes and Balwani, and Theranos closed shortly after.
Fortunately, the Theranos saga has not stunted investment in healthcare technology startups. Spending was in the tens of billions in 2021, although that number has dropped this year as the COVID-19 pandemic has waned, according to TechCrunch. Nevertheless, it is safe to assume that healthcare tech investors are scrutinizing scientific data from startups more thoroughly because of the Theranos fraud case.
Meanwhile, the saga of Theranos continues to leave a bad taste in the mouths of many clinical laboratory managers and pathologists. That’s because, during the peak period of adulation and spectacular news coverage about Elizabeth Holmes and her plans to totally disrupt the clinical laboratory industry, hospital and health system CEOs believed that they would be able to downsize their in-house medical laboratories and obtain lab tests from Theranos at savings of 50% or more. Consequently, during the years 2013 through the end of 2015, some hospital lab leaders saw requests for capital investment in their labs denied or delayed.
One example of how hospital CEOs embraced news of Theranos’ blood testing technology took place at the Cleveland Clinic. Elizabeth Holmes did such a good job selling the benefits of the Edison technology, then-CEO, Toby Cosgrove, MD, placed Theranos at number three on its list of top ten medical innovations for 2015.
In later years, Cosgrove admitted that no one at Cleveland Clinic or its pathologists were allowed to examine the analyzers and evaluate the technology.
It was for these reasons that the demise of Theranos was welcomed by many hospital lab administrators and pathologists. The fact that two of Theranos’ senior executives have been convicted of fraud validates many of the serious concerns that medical laboratory professionals had at that time, but which most major news reporters and media ignored and failed to report to the public.
OPKO Health’s 4Kscore test predicts the rate of high-risk prostate cancer and may become a useful business case study for other labs developing proprietary diagnostic tests
Clinical laboratories and biotech companies with new medical laboratory tests are struggling to win coverage by Medicare and private payers. How big is this problem? There are currently tens of thousands of molecular diagnostic assays and genetic tests offered for clinical use.
Any lab company seeking to obtain an appropriate Current Procedural Terminology (CPT) code, favorable coverage guidelines, and adequate reimbursement from health insurers for its new lab test faces three big challenges, and they are related. First, payers are simply overwhelmed with requests to review new genetic tests. The flood of new test submissions exceeds the capability of payers to respond.
Most Payers May Not Have Right Scientific Expertise to Evaluate Genetic Tests
Pathologists will be interested to learn that this latest version of the acoustic tweezer device requires about five hours to identify the CTCs in a sample of blood
Medical laboratory leaders and pathologists are well aware that circulating tumor cells (CTCs) released by primary tumors into the bloodstream are fragile and easily damaged. Many studies have sought to find ways to separate CTCs from surrounding cells. Such a process could then be used as an early-detection biomarker to detect cancer from a sample of blood.
One team of researchers believe it has a way to accomplish this. These researchers are using sound waves to gently detect and isolate CTCs in blood samples. In turn, this could make it possible to diagnose cancer using “liquid biopsies” as opposed to invasive conventional biopsies.
