Genetic engineers at the lab used the new tool to generate a catalog of 71 million possible missense variants, classifying 89% as either benign or pathogenic
Genetic engineers continue to use artificial intelligence (AI) and deep learning to develop research tools that have implications for clinical laboratories. The latest development involves Google’s DeepMind artificial intelligence lab which has created an AI tool that, they say, can predict whether a single-letter substitution in DNA—known as a missense variant (aka, missense mutation)—is likely to cause disease.
The Google engineers used their new model—dubbed AlphaMissense—to generate a catalog of 71 million possible missense variants. They were able to classify 89% as likely to be either benign or pathogenic mutations. That compares with just 0.1% that have been classified using conventional methods, according to the DeepMind engineers.
This is yet another example of how Google is investing to develop solutions for healthcare and medical care. In this case, DeepMind might find genetic sequences that are associated with disease or health conditions. In turn, these genetic sequences could eventually become biomarkers that clinical laboratories could use to help physicians make earlier, more accurate diagnoses and allow faster interventions that improve patient care.
“AI tools that can accurately predict the effect of variants have the power to accelerate research across fields from molecular biology to clinical and statistical genetics,” wrote Google DeepMind engineers Jun Cheng, PhD (left), and Žiga Avsec, PhD (right), in a blog post describing the new tool. Clinical laboratories benefit from the diagnostic biomarkers generated by this type of research. (Photo copyrights: LinkedIn.)
AI’s Effect on Genetic Research
Genetic experiments to identify which mutations cause disease are both costly and time-consuming, Google DeepMind engineers Jun Cheng, PhD, and Žiga Avsec, PhD, wrote in a blog post. However, artificial intelligence sped up that process considerably.
“By using AI predictions, researchers can get a preview of results for thousands of proteins at a time, which can help to prioritize resources and accelerate more complex studies,” they noted.
Of all possible 71 million variants, approximately 6%, or four million, have already been seen in humans, they wrote, noting that the average person carries more than 9,000. Most are benign, “but others are pathogenic and can severely disrupt protein function,” causing diseases such as cystic fibrosis, sickle-cell anemia, and cancer.
“A missense variant is a single letter substitution in DNA that results in a different amino acid within a protein,” Cheng and Avsec wrote in the blog post. “If you think of DNA as a language, switching one letter can change a word and alter the meaning of a sentence altogether. In this case, a substitution changes which amino acid is translated, which can affect the function of a protein.”
In the Google DeepMind study, AlphaMissense predicted that 57% of the 71 million variants are “likely benign,” 32% are “likely pathogenic,” and 11% are “uncertain.”
The AlphaMissense model is adapted from an earlier model called AlphaFold which uses amino acid genetic sequences to predict the structure of proteins.
“AlphaMissense was fed data on DNA from humans and closely related primates to learn which missense mutations are common, and therefore probably benign, and which are rare and potentially harmful,” The Guardian reported. “At the same time, the program familiarized itself with the ‘language’ of proteins by studying millions of protein sequences and learning what a ‘healthy’ protein looks like.”
The model assigned each variant a score between 0 and 1 to rate the likelihood of pathogenicity [the potential for a pathogen to cause disease]. “The continuous score allows users to choose a threshold for classifying variants as pathogenic or benign that matches their accuracy requirements,” Avsec and Cheng wrote in their blog post.
However, they also acknowledged that it doesn’t indicate exactly how the variation causes disease.
The engineers cautioned that the predictions in the catalog are not intended for clinical use. Instead, they “should be interpreted with other sources of evidence.” However, “this work has the potential to improve the diagnosis of rare genetic disorders, and help discover new disease-causing genes,” they noted.
Genomics England Sees a Helpful Tool
BBC noted that AlphaMissense has been tested by Genomics England, which works with the UK’s National Health Service. “The new tool is really bringing a new perspective to the data,” Ellen Thomas, PhD, Genomics England’s Deputy Chief Medical Officer, told the BBC. “It will help clinical scientists make sense of genetic data so that it is useful for patients and for their clinical teams.”
AlphaMissense is “a big step forward,” Ewan Birney, PhD, Deputy Director General of the European Molecular Biology Laboratory (EMBL) told the BBC. “It will help clinical researchers prioritize where to look to find areas that could cause disease.”
Other experts, however, who spoke with MIT Technology Review were less enthusiastic.
Heidi Rehm, PhD, co-director of the Program in Medical and Population Genetics at the Broad Institute, suggested that the DeepMind engineers overstated the certainty of the model’s predictions. She told the publication that she was “disappointed” that they labeled the variants as benign or pathogenic.
“The models are improving, but none are perfect, and they still don’t get you to pathogenic or not,” she said.
“Typically, experts don’t declare a mutation pathogenic until they have real-world data from patients, evidence of inheritance patterns in families, and lab tests—information that’s shared through public websites of variants such as ClinVar,” the MIT article noted.
Is AlphaMissense a Biosecurity Risk?
Although DeepMind has released its catalog of variations, MIT Technology Review notes that the lab isn’t releasing the entire AI model due to what it describes as a “biosecurity risk.”
The concern is that “bad actors” could try using it on non-human species, DeepMind said. But one anonymous expert described the restrictions “as a transparent effort to stop others from quickly deploying the model for their own uses,” the MIT article noted.
And so, genetics research takes a huge step forward thanks to Google DeepMind, artificial intelligence, and deep learning. Clinical laboratories and pathologists may soon have useful new tools that help healthcare provider diagnose diseases. Time will tell. But the developments are certain worth watching.
Cellular healthcare is an approach that goes beyond clinical laboratory testing to identify the location of specific cancer cells and aid in treatment decisions
Advances in synthetic biology and genetic engineering are leading to development of bacterial biosensors that could eventually aid pathologists and clinical laboratories in diagnosis of many types of cancers.
One recent example comes from researchers at the University of California San Diego (UCSD) who worked with colleagues in Australia to engineer bacteria that work as “capture agents” and bind to tumorous material.
The KRAS gene is associated with colorectal cancer. The researchers named their development the Cellular Assay for Targeted CRISPR-discriminated Horizontal gene transfer (CATCH).
CATCH successfully detected cancer in the colons of mice. The researchers believe it could be used to diagnose cancers, as well as infections and other diseases, in humans as well, according to a UCSD news release.
“If bacteria can take up DNA, and cancer is defined genetically by a change in its DNA, then, theoretically, bacteria could be engineered to detect cancer,” gastroenterologist Daniel Worthley, PhD, a cancer researcher at Colonoscopy Clinic in Brisbane, Australia, told MedicalResearch.com. This research could eventually provide clinical laboratories and anatomic pathologists with new tools to use in diagnosing certain types of cancer. (Photo copyright: Colonoscopy Clinic.)
Tapping Bacteria’s Natural Competence
In their Science paper, the researchers acknowledged other synthetic biology achievements in cellular biosensors aimed at human disease. But they noted that more can be done by leveraging the “natural competence” skill of bacteria.
“Biosensors have not yet been engineered to detect specific extracellular DNA sequences and mutations. Here, we engineered naturally competent Acinetobacter baylyi (A. baylyi) to detect donor DNA from the genomes of colorectal cancer cells, organoids, and tumors,” they wrote.
“Many bacteria can take up DNA from their environment, a skill known as natural competence,” said Rob Cooper, PhD, co-first author of the study and a scientist at US San Diego’s Synthetic Biology Institute, in the news release. A. baylyi is a type of bacteria renowned for success in doing just that, the NCI article pointed out.
This enabled them to explore “free-floating DNA sequences on a genomic level.”
Those sequences were compared to “known cancer DNA sequences.”
A. baylyi (genetically modified) was tested on its ability to detect “mutated and healthy KRAS DNA.”
Only bacteria that had “taken up mutated copies of KRAS … would survive treatment with a specific drug.”
“It was incredible when I saw the bacteria that had taken up the tumor DNA under the microscope. The mice with tumors grew green bacterial colonies that had acquired the ability to be grown on antibiotic plates,” said Josephine Wright, PhD, Senior Research Fellow, Gut Cancer Group, South Australian Health and Medical Research Institute (SAHMRI), in the news release.
Detecting DNA from Cancer Cells In Vitro and in Mice
Findings in vitro and in mice include the following:
The engineered bacteria enabled detection of DNA with KRAS G12D from colorectal cancer cells made in the lab, NCI reported.
When mice were injected with colorectal cancer cells, the researchers’ technology found tumor DNA, Engadget reported.
The study adds to existing knowledge of horizontal gene transfer from bacteria to bacteria, according to UCSD.
“We observed horizontal gene transfer from the tumor to the sensor bacteria in our mouse model of colorectal cancer. This cellular assay for targeted, CRISPR-discriminated horizontal gene transfer (CATCH) enables the biodetection of specific cell-free DNA,” the authors wrote in Science.
“Colorectal cancer seemed a logical proof of concept as the colorectal lumen is full of microbes and, in the setting of cancer, full of tumor DNA,” gastroenterologist Daniel Worthley, PhD, a cancer researcher at Colonoscopy Clinic in Brisbane, Australia, told MedicalResearch.com.
Finding More Cancers and Treatment
More research is needed before CATCH is used in clinical settings. The scientists are reportedly planning on adapting CATCH to multiple bacteria that can locate other cancers and infections.
“The most exciting aspect of cellular healthcare … is not in the mere detection of disease. A laboratory can do that,” wrote Worthley in The Conversation. “But what a laboratory cannot do is pair the detection of disease (a diagnosis) with the cells actually responding to the disease [and] with appropriate treatment.
“This means biosensors can be programmed so that a disease signal—in this case, a specific sequence of cell-free DNA—could trigger a specific biological therapy, directly at the spot where the disease is detected in real time,” he added.
Clinical laboratory scientists, pathologists, and microbiologists may want to stay abreast of how the team adapts CATCH, and how bacterial biosensors in general continue to develop to aid diagnosis of diseases and improve ways to target treatment.
Expanded genomic dataset includes a wider racial diversity which may lead to improved diagnostics and clinical laboratory tests
Human genomic research has taken another important step forward. The National Institutes of Health’s All of Us research program has reached a milestone of 250,000 collected whole genome sequences. This accomplishment could escalate research and development of new diagnostics and therapeutic biomarkers for clinical laboratory tests and prescription drugs.
The NIH’s All of Us program “has significantly expanded its data to now include nearly a quarter million whole genome sequences for broad research use. About 45% of the data was donated by people who self-identify with a racial or ethnic group that has been historically underrepresented in medical research,” the news release noted.
Detailed information on this and future data releases is available at the NIH’s All of us Data Roadmap.
“For years, the lack of diversity in genomic datasets has limited our understanding of human health,” said Andrea Ramirez, MD, Chief Data Officer, All of Us Research Program, in the news release. Clinical laboratories performing genetic testing may look forward to new biomarkers and diagnostics due to the NIH’s newly expanded gene sequencing data set. (Photo copyright: Vanderbilt University.)
Diverse Genomic Data is NIH’s Goal
NIH launched the All of Us genomic sequencing program in 2018. Its aim is to involve more than one million people from across the country and reflect national diversity in its database.
So far, the program has grown to include 413,450 individuals, with 45% of participants self-identifying “with a racial or ethnic group that has been historically under-represented in medical research,” NIH said.
“By engaging participants from diverse backgrounds and sharing a more complete picture of their lives—through genomic, lifestyle, clinical, and social environmental data—All of Us enables researchers to begin to better pinpoint the drivers of disease,” said Andrea Ramirez, MD, Chief Data Officer of the All of Us research program, in the news release.
More than 5,000 researchers are currently registered to use NIH’s All of Us genomic database. The vast resource contains the following data:
245,350 whole genome sequences, which includes “variation at more than one billion locations, about one-third of the entire human genome.”
1,000 long-read genome sequences to enable “a more complete understanding of the human genome.”
Analysis of drugs effectiveness in different patients.
Data Shared with Participants
Participants in the All of Us program, are also receiving personalized health data based on their genetic sequences, which Dark Daily previously covered.
“Through a partnership with participants, researchers, and diverse communities across the country, we are seeing incredible progress towards powering scientific discoveries that can lead to a healthier future for all of us,” said Josh Denny, MD, Chief Executive Officer, All of Us Research Program, in the news release.
“[Researchers] can get access to the tools and the data they need to conduct a project with our resources in as little as two hours once their institutional data use agreement is signed,” said Fornessa Randal, Executive Director, Center for Asian Health Equity, University of Chicago, in a YouTube video about Researcher Workbench.
For diagnostics professionals, the growth of available whole human genome sequences as well as access to participants in the All of Us program is noteworthy.
Also impressive is the better representation of diversity. Such information could result in medical laboratories having an expanded role in precision medicine.
This is good news for clinical laboratories that already perform medical testing for telehealth providers and an opportunity for medical labs that do not, it is an opportunity to do so
Telemedicine visits have become commonplace since the arrival of COVID-19. Before the pandemic, telehealth was primarily used to give remote patients access to quality healthcare providers. But three years later both patients and physicians are becoming increasingly comfortable with virtual office visits, especially among Millennial and Gen Z patients and doctors.
Now, a recent study by the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) suggests that there could be a significant financial advantage for hospitals that conduct telemedicine. This would be a boon to clinical laboratories that perform medical testing for telemedicine providers.
According to Digital Health News, in July 2017 Penn Medicine launched a 24/7/365 copayment-free telemedicine program for its employees called Penn Medicine OnDemand. To engage with a telemedicine provider, patients must have a smartphone or tablet with a front-facing camera and updated operating system.
Telemedicine Visits Cost Less than In-Office Doctor Appointments
An analysis of the OnDemand program’s data collected from its inception through the end of 2019 found that the telemedicine appointment per-visit cost averaged around $380, whereas the cost of an in-person visit at an emergency department, primary care office, or urgent care clinic averaged around $493.
Typically, Penn Medicine’s employees used the telemedicine program for common, low risk health complaints. Healthcare conditions that many patients might otherwise not seek treatment for if an in-office visit was inconvenient.
“The data we analyzed pre-date the pandemic. It was a time when people were just putting a toe in the water and wondering, ‘Let me see if telemedicine could treat my needs,’” Krisda Chaiyachati MD, an internal medicine physician and Adjunct Assistant Professor at Penn Medicine, told Digital Health News. Chaiyachati lead the research team that conducted the telemedicine study.
“These days, people seem willing to jump in for an appropriate set of conditions,” he added. “The good news is that we made care easier while saving money, and we think the savings could be higher in the future.”
Chaiyachati and his colleagues found that telemedicine can save employers healthcare costs without sacrificing quality of care.
“The conditions most often handled by OnDemand are low acuity—non-urgent or semi-urgent issues like respiratory infections, sinus infections, and allergies—but incredibly common, so any kind of cost reduction can make a huge difference for controlling employee benefit costs,” Krisda Chaiyachati MD (above), a Penn Medicine physician and the study’s lead researcher, told Digital Health News. Clinical laboratories that already perform testing for telemedicine providers may see an increase in test orders once hospitals learn of the costs savings highlighted in the Penn Medicine study. (Photo copyright: Penn Medicine.)
Telemedicine on the Rise
The idea is not new. In late 2018, Planned Parenthood launched the Planned Parenthood Direct mobile app in New York State. The app provides New York patients with access to birth control, emergency contraception, and UTI treatment with no in-person visit required.
The program has since expanded across the country. Users of the app can connect with a physician to go over symptoms/needs, and the be sent a prescription within a business day to the pharmacy of their choice.
The concept is similar to Penn Medicine OnDemand, which gives patients 24/7 year around access to treatment for common and low-acuity medical issues in a convenient, virtual process.
Telemedicine was on the rise in other parts of the healthcare industry before the pandemic. According to “The State of Telehealth Before and After the COVID-19 Pandemic” published by Julia Shaver, MD, Kaiser Permanente, in the journal Primary Care: Clinics in Office Practice, 76% of US hospital systems had utilized some form of telemedicine by 2018. This rate grew exponentially while the healthcare system had to navigate a world with COVID-19 on the rise.
And, apparently, quality of care does not suffer when moved from in-person to virtual settings. Two studies conducted by The University of Rochester Medical Center (URMC) found telemedicine to be effective and that “common concerns about telemedicine don’t hold up to scrutiny,” according a news release.
In her New England Journal of Medicine (NEJM) paper on the studies, Kathleen Fear, PhD, URMC’s Director of Data Analytics, Health Lab, and her co-authors, wrote: “Three beliefs—that telemedicine will reduce access for the most vulnerable patients; that reimbursement parity will encourage overuse of telemedicine; and that telemedicine is an ineffective way to care for patients—have for years formed the backbone of opposition to the widespread adoption of telemedicine.”
However, URMC’s study found the opposite to be true. The NEJM authors wrote, “there is no support for these three common notions about telemedicine. At URMC, the most vulnerable patients had the highest uptake of telemedicine; not only did they complete a disproportionate share of telemedicine visits, but they also did so with lower no-show and cancellation rates. It is clear that … telemedicine makes medical care more accessible to patients who previously have experienced substantial barriers to care.
“Importantly, this access does not come at the expense of effectiveness. Providers do not order excessive amounts of additional testing to make up for the limitations of virtual visits. Patients do not end up in the ER or the hospital because their needs are not met during a telemedicine visit, and they also do not end up requiring additional in-person follow-up visits to supplement their telemedicine visit,” the NEJM authors concluded.
“Not only did our most vulnerable patients not get left behind—they were among those engaging the most with, and benefiting the most from, telemedicine services. We did not see worse outcomes or increased costs, or patients needing an increased amount of in-person follow up. Nor did we find evidence of overuse. This is good care, and it is equitable care for vulnerable populations,” Fear said in the news release.
“For patients, the message is clear and reassuring: Telemedicine is an effective and efficient way of receiving many kinds of healthcare,” she added.
Opportunities for Clinical Laboratories
Dark Daily has covered the fast growing world of telemedicine in many ebriefs over the years.
As telemedicine broadens its reach across the healthcare world, clinical laboratories and pathology groups would be wise to seek collaboration with health plans and providers of telemedicine to figure out where sample collection and testing fits into this new virtual healthcare space.
This is another approach to the liquid biopsy that clinical laboratories and pathologists may use to detect cancer less invasively
Screening for cancer usually involves invasive, often painful, costly biopsies to provide samples for diagnostic clinical laboratory testing. But now, scientists at the University of Technology (UTS) in Sydney, Australia, have developed a novel approach to identifying tumorous cells in the bloodstream that uses imaging to cause cells with elevated lactase to fluoresce, according to a UTS news release.
The UTS researchers created a Static Droplet Microfluidic (SDM) device that detects circulating tumor cells (CTC) that have separated from the cancer source and entered the bloodstream. The isolation of CTCs is an intrinsic principle behind liquid biopsies, and microfluidic gadgets can improve the efficiency in which problematic cells are captured.
The University of Technology’s new SDM device could lead the way for very early detection of cancers and help medical professionals monitor and treat cancers.
“Managing cancer through the assessment of tumor cells in blood samples is far less invasive than taking tissue biopsies. It allows doctors to do repeat tests and monitor a patient’s response to treatment,” explained Majid E. Warkiani, PhD, Professor, School of Biomedical Engineering, UTS, and one of the authors of the study, in a news release. Clinical laboratories and pathologists may soon have a new liquid biopsy approach to detecting cancers. (Photo copyright: University of New South Wales.)
Precision Medicine a Goal of UTS Research
The University of Technology’s new SDM device differentiates tumor cells from normal cells using a unique metabolic signature of cancer that involves the waste product lactate.
“A single tumor cell can exist among billions of blood cells in just one milliliter of blood, making it very difficult to find,” explained Majid E. Warkiani, PhD, a professor in the School of Biomedical Engineering at UTS and one of the authors of the study, in the news release.
“The new [SDM] detection technology has 38,400 chambers capable of isolating and classifying the number of metabolically active tumor cells,” he added.
“In the 1920s, Otto Warburg discovered that cancer cells consume a lot of glucose and so produce more lactate. Our device monitors single cells for increased lactate using pH sensitive fluorescent dyes that detect acidification around cells,” Warkiani noted.
After the SDM device has detected the presence of questionable cells, those cells undergo further genetic testing and molecular analysis to determine the source of the cancer. Because circulating tumor cells are a precursor of metastasis, the device’s ability to identify CTCs in very small quantities can aid in the diagnosis and classification of the cancer and the establishment of personalized treatment plans, a key goal of precision medicine.
The new technology was also designed to be operated easily by medical personnel without the need for high-end equipment and tedious, lengthy training sessions. This feature should allow for easier integration into medical research, clinical laboratory diagnostics, and enable physicians to monitor cancer patients in a functional and inexpensive manner, according to the published study.
“Managing cancer through the assessment of tumor cells in blood samples is far less invasive than taking tissue biopsies. It allows doctors to do repeat tests and monitor a patient’s response to treatment,” stated Warkiani in the press release.
The team have filed for a provisional patent for the device and plan on releasing it commercially in the future.
Other Breakthroughs in MCED Testing
Scientists around the world have been working to develop a simple blood test for diagnosing cancer and creating optimal treatment protocols for a long time. There have been some notable breakthroughs in the advancement of multi-cancer early detection (MCED) tests, which Dark Daily has covered in prior ebriefings.
According to the Centers for Disease Control and Prevention (CDC), cancer ranks second in the leading causes of death in the US, just behind heart disease. There were 1,603,844 new cancer cases reported in 2020, and 602,347 people died of various cancers that year in the US.
According to the National Cancer Institute, the most common cancers diagnosed in the US annually include:
Cancer is a force in Australia as well. It’s estimated that 151,000 Australians were diagnosed with cancer in 2021, and that nearly one in two Australians will receive a diagnosis of the illness by the age of 85, according to Cancer Council South Australia.
The population of Australia in 2021 was 25.69 million, compared to the US in the same year at 331.9 million.
The development of the University of Technology’s static droplet microfluidic device is another approach in the use of liquid biopsies as a means to detect cancer less invasively.
More research and clinical studies are needed before the device can be ready for clinical use by anatomic pathology groups and medical laboratories, but its creation may lead to faster diagnosis of cancers, especially in the early stages, which could lead to improved patient outcomes.
Demand for low cost, convenient access to doctors and drugs is driving transformation to decentralized medical care, and retail pharmacy chains see opportunity in offering primary care services
Retail pharmacies and pharmacists continue to play a growing role in healthcare as consumer demand for lower cost and convenience pushes the nation’s medical landscape away from centralized healthcare systems. Clinical laboratories have seen this in the increasing trend of consumers seeking vaccinations and home-health tests at their local drug stores.
Results of a pair of surveys dubbed “Pharmacy Next” conducted by Wolters Kluwer Health revealed that 58% of people are now willing to be treated for non-emergency healthcare conditions in non-traditional medical environments, such as retail pharmacies and clinics.
This is a finding that clinical laboratory managers and pathologists should incorporate into their labs’ strategic planning. It portends a shift in care away from the traditional primary care clinic—typically located in the campus around the community hospital—and toward retail pharmacies. Labs will want to capture the test referrals originating from the primary care clinics located in retail pharmacies.
This willingness to access medical care in non-traditional environments is especially true among people in Generation Y (Millennials) and Generation Z (Zoomers)—people born between 1981-1996 (Gen Y) and 1997-2012 (Gen Z), according to Journey Matters.
“As we saw in last year’s survey, primary care decentralization is continuing—the traditional one doctor-one patient, single point of coordination is vanishing, and this is especially evident in younger generations,” said Peter Bonis, MD, Wolters Kluwer’s Chief Medical Officer, in a press release.
The online surveys of more than 2,000 US adults was weighted by age, gender, household income, and education to be representative of the entire population of the United States.
“By preparing for this shift today, providers can work in concert across care sites to deliver the best care to patients,” said Peter Bonis, MD, Wolters Kluwer Health Chief Medical Officer, in a press release. “Likewise, newer care delivery models, like retail pharmacies and clinics, can ensure they’re ready to meet the expectations of healthcare consumers, who will increasingly be turning to them for a growing range of care needs.” Clinical laboratories may find new revenue opportunities working with the primary care clinics operating within local retail pharmacists and clinicians. (Photo copyright: Wolters Kluwer.)
Key Findings of the Wolters Kluwer Pharmacy Next Studies
Some key insights of the surveys include:
Care is rapidly decentralizing with 58% stating they are likely to visit a local pharmacy for non-emergency medical care.
Younger generations are signaling lasting change within the industry as they are more open to non-traditional styles of care.
61% of respondents envision most primary care services being provided at pharmacies, retail clinics, or pharmacy clinics within the next five years. Of the respondents, 70% of Millennials, 66% of Gen Z, 65% of Gen X, and 43% of Baby Boomers believe this transition will occur.
Consumers are worried about prescription costs and availability.
92% of respondents said physicians and pharmacists should inform patients of generic options.
59% of surveyed consumers have concerns about drug tampering and theft when it involves mail order or subscription prescription services.
One in three respondents believe convenience is more important than credentials in non-emergency situations.
The survey indicates that healthcare consumers across multiple generations are open to a shift in some medical services from doctors to pharmacists. However, there were some notable differences between generations.
Respondents of the Baby Boomer (55%) and Gen X (57%) generations stated they would trust a physician assistant with medication prescriptions, while only 42% of Gen Z and 47% of Millennial respondents felt the same way.
Additionally, Boomers (57%) and Gen X (67%) said they would feel comfortable with a nurse practitioner issuing their prescriptions, while only 44% of Gen Z and 53% of Millennials said they would.
Increased Comfort with Genetic Testing at Pharmacies
The surveys also showed that younger generations are more open to the field of pharmacogenomics, which combines pharmacology and genomics to analyze how an individual’s genetic makeup (aka, heredity) affects the efficacy and reactions to certain drugs. This is a key component of precision medicine.
Overall, 68% of individuals polled believe their individual genomic data could guide prescription decisions, with Millennials (77%) and Gen Z (74%) being the primary believers. Additionally, 88% of respondents stated they see an incentive for health insurers to cover genomic testing, and 72% said they would be open to genetic testing for personalized medical care.
But pharmacists and clinicians should be aware that advancing pharmacogenomics will require addressing privacy concerns. According to the Wolters Kluwer study, 57% of Gen Z and 53% of Millennials have apprehension surrounding genetic testing due to privacy risks, with 35% of Gen X and Boomers holding that same opinion.
Healthcare Staff Shortages, Drug Cost a Concern
Survey respondents are also concerned about pharmacy staff shortages and expenditures when seeking care at a pharmacy. Half of the participants are worried they will receive the wrong medication, half worry about getting the incorrect dosage, and almost half (47%) fear receiving the wrong directions due to overburdened pharmacy employees.
More people in Gen Z (59%) and Millennials (60%) had these concerns compared to Gen X (44%) and Boomers (38%).
Sadly, a distressing 44% of those surveyed admitted to not filling a prescription due to the costs. That number jumps to a staggering 56% among individuals with no health insurance, compared to 42% for insured patients.
“From hospitals to doctors’ offices, from pharmacies to pharma and beyond, healthcare must move to more affordable and accessible primary care models, adopt innovations that help deliver more personalized care, and address persistent safety and cost concerns that consumers have about their medications,” said Bonis in the press release.
Can Pharmacies Deliver Primary Care as Well as Doctor’s Offices?
Pharmacies may be logical setting for at least some non-emergency health services. According to the Centers for Disease Control and Prevention (CDC), approximately 90% of the US population live within five miles of a pharmacy and about 72% of visits to physician’s offices involve the prescribing and monitoring of medication therapies.
“We’re not talking about complicated services. We’re talking low-acuity, very basic care,” said Anita Patel, PharmD, Vice President of Pharmacy Services Development for Walgreens, at the HIMSS conference.
Pharmacies across the country continue to add more healthcare services to their available public offerings. This trend will likely persist into the future as healthcare becomes more expensive, wait times for physician appointments increases, and medical staff shortages rise. Thus, there may be opportunities for clinical laboratories to support pharmacists and doctors working in retail settings.
