LII:Laboratory Informatics Buyer's Guide for Medical Diagnostics and Research/Introduction to medical diagnostics and research laboratories

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1. Introduction to medical diagnostics and research laboratories

Medical Laboratory Scientist US NIH.jpg

Those who work in a medical diagnostics or research laboratory have a lot on their plate. (Or is that "on their slides"? "In their blood collection tubes"?) From small- to high-volume laboratories, the analysts in them must follow strict workflows and procedures in order to produce timely and accurate results for the best possible patient health outcomes. Many of those analysts will also have additional ancillary roles within the laboratory, including controlling quality, managing regulatory and cybersecurity requirements, and managing and updating documentation. Particularly in medical labs with significant volume, the chance for human error to impact operations and patient health may increase, requiring systematic and continual improvement approaches to collecting, analyzing, and protecting patient data.[1][2] The introduction of laboratory informatics solutions and other information technology within the medical diagnostic and research fields has made those approaches easier to adopt, resulting in smoother procedures and improved patient safety.[2][3][4]

Evaluating, selecting, implementing, and maintaining a laboratory informatics solution is no simple task, however. The laboratory team (or individual) taking these actions must consider their laboratory's business goals, current and future workflows, and the regulations that affect them, as well as the budget for the lab, its technology requirements, and its cybersecurity goals. And then of course there's the matter of understanding the options available and working with vendors to make the theoretical solution a reality, backed up with updates to training, business processes, and responsibilities within the organization. This can, for some, lead to a state of anxiety.

But the acquisition and implementation of a laboratory informatics solution doesn't have to be painful. With advance preparation and a full understanding of both how your lab's internal processes work and how acquiring a system should ideally occur, you'll be better prepared to take the leap.

This guide aims to assist you in that preparation, providing referenced information about the various processes and details of putting a laboratory informatics solution to work for you and your medical lab. We begin below by providing background on a variety of medical diagnostic and research laboratories, from pathology and public health labs to genetic diagnostic and central labs. Afterwards, the second chapter covers a wide array of considerations to make when evaluating, selecting, implementing, and maintaining an informatics solution, including an introduction to the benefits of a user requirements specification (URS) for that process. The third, fourth, and fifth chapters offer a wealth of resources for putting chapter two's information to use, including vendor lists, service providers, organizations, conferences, and other information sources. It also introduces LIMSpec, an ever-evolving software URS for laboratory informatics systems. The sixth chapter then gets into the nuts and bolts of the value of a URS, and more specifically LIMSpec, as well as how to get the most out of it. We provide closing comments afterwards, followed by an appendix that contains a blank version of the LIMSpec for medical diagnostic and research labs, along with a downloadable Microsoft Word version of the same document.

1.1 Medical diagnostics lab

Often referred to as simply a medical or clinical laboratory, the medical diagnostics lab performs tests on clinical specimens in order to get information about the health of a patient as it pertains to the diagnosis, treatment, and prevention of disease.[5] An additional definition is provided by the Clinical Laboratory Improvement Amendments (CLIA) program, as "a facility that performs testing on materials derived from the human body for the purpose of providing information for the diagnosis, prevention, or treatment of any disease or impairment of, or assessment of the health of, human beings."[6]

At a basic level, the medical laboratory, whether chemistry or pathology, operates like many other analytical testing laboratories. However, there are a few nuances between the medical laboratory and other analytical laboratories. Aside from handling human and animal specimens, one of these differences is the need to have a specific unidirectional workflow. This is intended to both minimize the risk of biohazard contamination and to establish assurance that sample cross contamination is minimized.[7][8] Another major difference concerns the regulations governing the management of patient data (e.g., the Health Insurance Portability and Accountability Act [HIPAA] in the U.S. and General Data Protection Regulation [GDPR] in Europe). This creates a significant challenge not generally experienced by other types of analytical laboratories.

In most parts of the world, the medical laboratory is either attached to a hospital, performing tests on their patients, or acts as a private (or public) laboratory that receives analysis requests and samples from physicians, insurance companies, clinical research sites, and other health clinics for analysis. In cases where a particularly specialized analysis is required and a standard medical laboratory is not equipped to handle it, a research laboratory with the appropriate equipment and expertise may be employed. In other cases, a laboratory may decide it's simply more cost effective to contract more specialized, less common analyses out to specialized medical labs rather than heavily invest in the equipment and training to perform such analyses. Examples include the molecular diagnostics and cytogenetics laboratory, which provide diagnoses and treatment options for genetic or cancer-related disorders.

Like other analytical laboratories, regulations, laws, and standards typically drive how vital aspects of the laboratory operate. In the United States, clinical laboratories are primarily regulated by the Department of Health and Human Services. Inside that infrastructure are sub-entities like the Centers for Disease Control and Prevention (CDC) and the Centers for Medicare and Medicaid Services (CMS) to apply standards and regulations through their respective Laboratory Quality Assurance and Standardization Programs, and the Clinical Laboratory Improvement Amendments.[9][10][11] Although generally not as strict as the regulations regarding pharmaceutical and diagnostic manufacturers, the regulations affecting the medical laboratory nonetheless act as a significant hurdle to managing the overall operations of the laboratory, from acquiring customers and samples, to testing, reporting results, and handling billing for the completed tests.

Internationally, regulatory bodies vary from country to country. However, organizations like the not-for-profit Clinical and Laboratory Standards Institute (CLSI)[12] and associations like the Research Quality Association (RQA)[13] exist to promote a more global approach to regulations and guidance affecting medical diagnostic and research laboratories. Additionally, a set of Good Clinical Laboratory Practice standards—originally developed in 2002 and since adopted by the World Health Organisation (WHO), non-governmental organizations (NGOs), and research institutions worldwide—provide guidance on implementing laboratory practices that are critical for laboratory operations around the world.[14][15]

1.1.1 Pathology

Pathological view of a blood clot

Pathology is at the heart of a medical laboratory's operations. In the context of modern medical treatment, the laboratory practice of pathology involves analytical workflow, which falls within the contemporary medical field of "general pathology," and the associated determination of the causes and effects of disease and other medical ailments. General pathology is broadly composed of a number of distinct but inter-related medical specialties that involve the analysis of tissue, cell, and body fluid specimens to better understand the cause, pathogenesis, morphologic changes, and clinical manifestations of a disease.[16] In common medical practice, general pathology is mostly concerned with analyzing known clinical abnormalities that are markers or precursors for both infectious and non-infectious disease and is conducted by experts in one of two major specialties: anatomical pathology and clinical pathology. Additional subspecialties of pathology may further specialize in specific diseases (such as cancer) or situational focuses (such as cause of death). Anatomical vs. clinical pathology

Anatomical (or "anatomic") pathology is a medical specialty of pathology that is concerned with the gross, microscopic, chemical, immunologic, and molecular examination of organs, tissues, and whole bodies (as in autopsy) to determine the presence of disease. Its subspecialties include surgical pathology (e.g., neuropathology, dermatopathology, etc.), cytopathology, and forensic pathology.[17] Clinical pathology, however, is concerned with the diagnosis of disease based on the laboratory analysis of bodily fluids such as blood, urine, and tissues using the tools of chemistry, microbiology, hematology, and molecular analysis. Its subspecialties include hematopathology, immunopathology, and molecular pathology.[17] Both anatomical and clinical pathologists work in close collaboration with clinical scientists (i.e., clinical biochemists, clinical microbiologists, etc.), medical technologists, surgeons, hospital administrators, and referring physicians to ensure the accuracy and optimal utilization of laboratory testing. Yet some argue the distinction between anatomic and clinical pathology is increasingly blurred by the introduction of molecular technologies that require new expertise and the need to provide patients and referring physicians with integrated diagnostic reports.[18][19]

Regardless, some differences between anatomical and clinical pathology remain distinct[20]:

  • Specific dictionary-driven tests are found in clinical pathology environments, but not so much in anatomic pathology environments.
  • Ordered anatomic pathology tests typically require more information than clinical pathology tests.
  • A single anatomic pathology order may be comprised of several tissues from several organs; clinical pathology orders usually do not.
  • Anatomic pathology specimen collection may be a procedural, multi-step process, while clinical pathology specimen collection is routinely more simple.

The differences between the two may appear to be small, but a differentiation in laboratory workflow between the two is apparent, to the point that developers of laboratory information systems (LIS) and anatomic pathology computer systems used in the pathology fields have created different functionality for them. Specimen collection, receipt, and tracking; work distribution; and report generation may vary–sometimes significantly–between the two, requiring targeted functionality in the utilized software.[21][22] Forensic pathology

Typically associated with a medical examiner or coroner, forensic pathology is focused on identifying and determining the cause of death of an individual. This includes not only the analysis of wounds and injuries but also full tissue specimens, identifying traumas—as well as chemical, biological, and solid foreign bodies and contaminates—that may have played a role in the individual's death. Anatomic pathology plays an important part of the examiner's analyses—represented by the forensic pathologist's required training—though clinical pathology also plays a role.[23] Outside the gross examination of a body, the forensic pathologist will rely on the lab to conduct a variety of analyses. Whole organs and slides containing cross-sectional slivers of organs, as well as blood, urine, bile, and vitreous humor may be analyzed for toxicology, DNA typing, infectious diseases, disorders, or other chemical tests.[24] In particular, maintaining chain of custody for such specimens is vital to ensure analyses are correct and evidence is not compromised. Though a medical laboratory, the forensic pathology laboratory isn't held to the same CLIA standards; they must be accredited by a related organization such as The American Society of Crime Laboratory Directors/Laboratory Accreditation Board to ensure the lab operates at prescribed standards.[24]

1.1.2 Physician office lab

Point-of-care devices such as this rapid syphilis test are commonly used in the POL.

The physician office lab, or POL, is a physician-, partnership-, or group-maintained laboratory that performs medical diagnostic tests or examines specimens in order to diagnose, prevent, and/or treat a disease or impairment in a patient as part of the physician practice.[25][26] The POL shows up in primary care physician offices as well as the offices of specialists like urologists, hematologists, gynecologists, and endocrinologists. In many countries like the United States, the POL is considered a clinical laboratory and is thus regulated by federal, state, and/or local laws affecting such laboratories.[26][27] In October 2021, the Centers for Medicare and Medicaid Services (CMS) reported 41% of all CLIA-approved laboratories in the United States (130,335) were physician office laboratories.[28] However, as of 2014, POLs were estimated to be processing only about nine percent of all clinical laboratory tests.[29]

Testing and reporting at a POL, at least in the U.S., is largely concentrated on the realm of waived CLIA testing. As of October 2021, 68% of the POLs in the United States were primarily running CLIA waived tests.[30] CLIA test complexity has three levels: high, moderate, and waived.[31] Waived tests are simple to perform and have a relatively low risk of an incorrect test result. Moderately complex tests include tests like provider performed microscopy (PPM), which requires the use of a microscope during the office visit. Providers that want to perform PPM tests must be qualified to do so under CLIA regulations.[31] High-complexity tests require the most regulation. These tests are the most complicated and run the highest risk of an inaccurate result, as determined during the Food and Drug Administration (FDA) pre-market approval process. Tests may come from the manufacturer with their complexity level on them, or one can search the FDA database to determine the complexity of the test.[31]

Commonly performed tests include[32]:

  • urine analysis
  • urine pregnancy
  • blood occult
  • glucose blood
  • pathology consultation during surgery
  • crystal identification by microscope
  • sperm identification and analyses
  • bilirubin total
  • blood gasses
  • complete blood count
  • bone marrow smear
  • blood bank services
  • transfusion medicine

1.1.3 Integrative medicine lab

Dr. Ralph Snyderman, Director of the Center for Personalized Health Care at Duke University, defines integrative medicine as a process that creates and encourages "a seamless engagement by patients and caregivers in the full range of physical, psychological, social, preventive, and therapeutic factors known to be effective and necessary for the achievement of optimal health over the course of one's life."[33] This type of personalized healthcare takes a more holistic approach to the causes of illnesses, including the biological, behavioral, psychosocial, and environmental contributors.[34] Some medical laboratories such as those found within Duke Integrative Medicine[35], as well as Harvard Medical School's Contemplative Neuroscience and Integrative Medicine Laboratory[36], include an integrative medicine approach to their medical diagnostic and research activities. Laboratories associated with integrative medicine approaches are quite similar to standard medical laboratories, though, broadly speaking, they may focus more on nutritional, metabolic, and toxicity test types.[37]

1.2 Public health lab

A public health laboratory is a type of medical laboratory that serves regional, national, or in some cases global communities by providing clinical diagnostic testing, environmental testing, disease diagnosis and evaluation, emergency response support, applied research, regulation and standards recommendations, laboratory training, and other essential services to the communities they serve.[38][39][40][41]

A public health laboratory is unlike the average medical laboratory because it is "integrated into the broader public health system."[38] The public health laboratory must typically meet more stringent requirements, including adhering to not only CLIA (for labs in the United States), but also additional regulations laid out by the departments, agencies, and other regulatory bodies of local, state, and/or national governments. Finally, the private medical laboratory focuses on tests that diagnose the diseases of individuals, while the functions of the public health laboratory serve entire populations.[38][41]

A 2002 Association of Public Health Laboratories (APHL) report helped identify 11 core functions that state public health laboratories in the United States should accomplish, giving clearer insight into how the average public health laboratory in most parts of the world should operate. Note that this is not a guarantee every lab will perform these tasks, but it's a standard of what the lab should be responsible for doing. Those suggested 11 core functions are[42]:

  • disease prevention, control, and surveillance: provide timely and accurate analytical results for the assessment and surveillance of exposures; rapidly recognize and prevent the spread of communicable diseases; detect and identify biologic agents of significance in human disease; provide specialized tests for low-incidence, high-risk diseases;
  • integrated data management: accumulate, blend, and disseminate scientific information in support of public health programs; collect, monitor, and analyze laboratory data using national database systems; assist state epidemiologists, other laboratories, and practitioners with data needs
  • reference and specialized testing: serve as a primary reference microbiology laboratory for a wide variety of needs
  • environmental health and protection: conduct scientific analyses of potentially threatening environmental samples; detect, identify, and quantify toxic contaminants in environmental and biological specimens; provide air, water, soil, and other environmental laboratory testing services; provide environmental chemistry testing; determine the relationship between environmental hazards and human health; determine extent of a community's exposure to environmental hazards; provide industrial hygiene/occupational health testing
  • food safety: test specimens implicated in foodborne illness outbreaks to identify causes and sources; detect, identify, and quantify toxic contaminants in food specimens; monitor radioactive contamination of water, milk, shellfish, and other foods
  • laboratory improvement and regulation: coordinate and promote quality assurance programs in other laboratories; act as a standard and leader for other laboratories; develop and oversee quality assurance and laboratory improvement programs; oversee the licensure, certification, and accreditation of other laboratories
  • policy development: assist the development of state and federal public health policy; assist in the development of standards for all health-related laboratories
  • emergency response: provide laboratory support to state and national disaster preparedness plans and environmental or health emergencies
  • public health-related research: evaluate and implement new technologies and analytical methodologies in support of public health and healthcare communities; adapt emerging technologies to public health laboratories; conduct applied studies into new and improved analytical methods and services; assist the private sector with newly marketed tests
  • training and education: sponsor training opportunities for public health laboratory staff; provide or facilitate training and workshops for laboratory staff in private and public sectors; provide training opportunities for careers in public health laboratory practice; provide continuing education opportunities to staff
  • partnerships and communication: develop and strengthen partnerships among state, county, and city entities public and private; emphasize the role and value of the public health laboratory to state public health programs; participate in strategic policy planning and development processes; build and strengthen diverse communication networks

1.3 Toxicology lab

Toxicology is a multidisciplinary study of the adverse effects of chemical substances on living organisms, and tangentially the diagnosis and treatment of exposures to those chemical substances. Toxicologists determine how plants, animals, and bacterial organisms are affected by agricultural chemicals, industrial chemicals, metals, vapors and gases, naturally occurring toxins, and drugs, typically caused by the absorption, distribution, metabolism, and excretion of those substances.[43] Like other fields, many subspecialties are associated with toxicology, including[43]:

  • analytical toxicology, for identifying toxicants;
  • biomedical toxicology, for identifying how toxicants cause disease;
  • environmental toxicology, for evaluating the effects of environmental chemicals and contaminants;
  • forensic toxicology, for evaluating how toxicants and other chemicals caused death;
  • molecular toxicology, for the application of molecular biology to toxicity;
  • occupational toxicology, for evaluating the effects of chemical exposure in the workplace; and
  • regulatory toxicology, for applying mechanistic information from toxicology to regulations and standards development.

Similar to a medical laboratory, a toxicology laboratory may focus on diagnostics or research. Test types may vary based on the focus. For example, toxicity testing on research animals may involve testing for acute toxicity, subacute toxicity, short-term subchronic toxicity, long-term chronic toxicity, reproductive toxicity, developmental toxicity, mutagenicity assays, irritation, allergic reaction, inhalation, and immunotoxicity.[43] However, diagnostic testing will involve testing for drugs of abuse, poisons, and heavy metals, or other toxicants. Pharmacogenetic testing may also be performed to develop dosing regiments for a specific drug.[44][45]

Toxicology laboratories in unique settings such as emergency departments of hospitals require extra consideration. For example, while toxicology testing in the emergency department is normal in regards to supporting and validating clinical findings, the testing must also take into account the legal ramifications of test results. Those results may be used in court cases, requiring strict chain-of-custody, full documentation, methodologies, and quality control results to be maintained. Additional specimens may be required by government bodies for their own testing, and as such the lab may want to add additional specimen collection to its official workflow. Additionally, personnel may need to become familiar with testimony procedures if required to testify in a criminal court case.[46]

1.4 Blood bank and transfusion lab

Blood Research- Saving Lives (8352) (9759352093).jpg

Blood banking is the organized laboratory process of ensuring donated blood or blood products are safe to use for transfusion or other medical procedures.[47][48] As part of this process, blood bank and transfusion labs will include procedures such as[47]:

  • ABO group typing (the blood type)
  • Rh typing (positive or negative antigen)
  • problematic antibody screening and removal (e.g., removing white blood cells from leukocyte-reduced blood)
  • current or past infection screening (e.g., hepatitis B and C, HIV, syphilis, West Nile)
  • T-lymphocyte irradiation
  • albumin, immune globulin, and clotting factor concentrate separation and processing

Additional considerations beyond the basic medical diagnostic lab are required at a blood banking lab. Like a medical diagnostic lab, blood banking personnel must use processes that protect them and others from biological infections (i.e., biosafety). Additionally, recipients of blood and blood products from the lab must also be protected, requiring extra procedures for screening, testing, documenting, and providing oversight. This includes screening against high-risk donors such as commercial sex workers and drug users, testing potential donors for infection diseases, documenting and reviewing (lookback of) donors and recipients, ensuring sufficient time is given for blood testing and cross-matching, and ensuring staff are appropriately trained concerning the risks to them and patients.[48] Additionally, staff are required to use a "first in, first out" or FIFO approach where stored blood and components are appropriately dated, stored according to date of expiry, and removed oldest first.[49] Blood banks have additional regulatory concerns as well, including monitoring storage temperature and expiry times for blood and blood products based on regulation. For example, in the United States, the FDA mandates—through 21 CFR 610.53—dating period limitations and temperatures.[50]

1.5 Central and contract research lab

Medical research laboratories provide a regulated environment for the testing of the safety and efficacy of a variety of medical treatments and diagnostic devices, including medications, implants, and physician test kits. These facilities form the backbone of today's effective medical treatments, from cholesterol-lowering medications to pacemakers for the heart. In the U.S., these types of labs are overseen by the FDA. Medical research labs provide many different analytical and consulting services, including (but not limited to)[51][52]:

  • clinical studies
  • bioequivalence studies
  • study design and management
  • high-volume specimen testing
  • custom assay development
  • test kit development and supply

Medical research can happen in the private, government, and academic sectors. Private medical research labs are most often referred to as "central laboratories," which are contracted by pharmaceutical companies and medical device manufacturers. Though mentioned occasionally in its regulation and guidance, the U.S. Food and Drug Administration doesn't seem to provide a definition of the term "central laboratory." However, it gets used by some in the context of an analytical laboratory that provides analyses of biological specimens associated with clinical and bioequivalence studies (including multi-site studies, prompting the idea of a "central" lab handling sample analysis) performed at medical institutions.[51][53] These central labs may also be contracted out to provide "courier services for delivering lab kits and biosamples from/to medical institutions where diagnostics and treatment of patients is performed."[53] Analytical testing and other services at a central or contract lab include anatomic pathology, digital pathology, immunology, microbiology, flow cytometry, biomarker testing, pharmacokinetic testing, genomic testing, and specimen and biorepository management.[54][55]

1.5.1 Medical and other research in academia

Medical research also occurs in academia, and they need suitably equipped and staffed laboratories for conducting studies. As such, universities may host their own central or core laboratory for both in-house[56] and contract research services.[57]

Clinical studies and trials aside, other types of academic research may require laboratory services as well. Take for example the archaeology laboratory, which is responsible for cleaning, analyzing, and identifying artifacts and remains from various sites either as part of a greater research effort or as a contract laboratory service.[58][59] Research in information technology and communication also occurs in (dry) laboratories; examples include the privately owned Nokia Bell Laboratory[60] and the university-affiliated University of New Hampshire InterOperability Laboratory.[61]

1.6 Genetic diagnostics lab

Molecular Diagnostics.jpg

In 2018, the World Health Organization (WHO) noted the following about modern genetic testing[62]:

Prior to the development of modern genetic technologies, genetic services were limited to genetic counselling, where health professionals would attempt to characterize the genetic contribution of diseases based on family histories. With the discovery of DNA, genetic services have dramatically increased in quality and scope. Increasingly sophisticated technologies now permit new methodology and high quality preparations, ensuring greater accuracy in diagnosis.

A genetic diagnostics lab uses genetic testing to evaluate DNA in the search for a genetic cause for symptoms or a disease. The lab may also have other responsibilities or goals, including interpreting results for physicians, detecting mutations, developing new analytical methods, and improving patient care through its discoveries.[62][63]

The WHO classifies genetic testing into five broad categories[62]:

  1. Carrier identification screening: a test that checks one or more individuals for whether or not they carry a genetic marker for a specific disease (e.g., cystic fibrosis)
  2. Prenatal diagnostic testing: a series of tests using routine in vitro fertilization methods when a gestating child is thought to have a genetically caused disease (e.g., Down syndrome)
  3. Newborn screening: one or more preventative health tests for treating a newborn early when treatment is available (e.g., congenital hypothyroidism)
  4. Late-onset disorder testing: testing that occurs later in life to determine susceptibility of an individual to a particular disease (e.g., cancer and heart disease)
  5. Identity testing: testing that "involves profiling the individuals genetic information from DNA test results of genetic markers in order to locate characteristics unique to the individual" (often used in forensic and criminal investigations)

As for the techniques used in genetic testing, the American Association for Clinical Chemistry (AACC) has five categories of techniques: polymerase chain reaction (PCR), DNA sequencing, microarrays, gene expression profiling, and cytogenetics. (For more on cytogenetics, see the following subsection.) The PCR technique is a copying technique that "enables specific genes or regions of interest to be detected or measured." DNA sequencing (e.g., next-generation sequencing or NGS) allows scientists to identify changes or variations in the way DNA is arranged that may indicate a disorder. Microarray testing has multiple uses, among them identifying duplications, deletions, or identical sections in DNA, which may indicate a propensity for a particular disease. Gene expression profiling looks at the genes of cells and determines if they are actively making proteins or not for aiding in prognosis, recurrence, and other types of diagnostic indicators for disease.[64]

1.6.1 Cytogenetics lab

Cytogenetics is a subcategory of genetics that specifically studies chromosomes and their structures. "Trained cytogeneticists examine the number, shape, and staining pattern of these structures using special technologies. In this way, they can detect extra chromosomes, missing chromosomes, missing or extra pieces of chromosomes, or rearranged chromosomes."[64] Some diseases occur as the result of these chromosomal anomalies; for example, amplification of a particular gene in breast cancer or translocation of part of a chromosome in chronic myelogenous leukemia may be spotted with cytogenetic techniques.[64]

The cytogenetics laboratory depends on several analytical techniques to make these sorts of genetic discoveries in a patient. Methods include chromosome analysis or karyotyping, fluorescence in situ hybridization (FISH), and microarray-based assays such as comparative genomic hybridization.[64][65][66] Karyotyping involves the separation of whole chromosomes from the nuclei of cells that have been stained with special dyes, cutting and arranging the resulting imagery of those chromosomes, and examining the results. FISH uses special "probes" that fluoresce gene segments of chromosomes. The position and number of the fluoresced gene segments is then analyzed for abnormalities.[64] And the comparative genomic hybridization assay uses a complicated process of using a "competitive" form of FISH that compares two DNA sources, which are denatured so they are single-stranded, and hybridizes the two samples in a 1:1 ratio to a normal metaphase spread of chromosomes.[67]

Like a normal medical diagnostic laboratory, the cytogenetics laboratory must follow a set of good practices, many of which are similar to the medical diagnostic lab. However, additional considerations to good practice specific to the cytogenetics laboratory are typically required, particularly in being assessed for accreditation. In Australia, for example, the National Pathology Accreditation Advisory Council (NPAAC) makes recommendations on the accreditation of laboratories providing cytogenetic services.[68] The College of American Pathologists (CAP) does something similar with its Cytogenetics Checklist for its CAP Accreditation Program.[69]

1.7 Medical cannabis testing lab

While the research, analysis, and processing of cannabis has been ongoing for centuries[70], it wasn't until 1896 that Wood et al. conducted one of the first documented chemical experiments to determine the constituents of cannabis. Several years later, the researchers were able to correctly identify the extracted and isolated cannabinol from the exuded resin of Indian hemp as C21H26O2.[71] As of mid-2018, somewhere between 104 upwards to more than 140 of the more than 750 constituents of Cannabis sativa have been identified as cannabinoids[72][73][74], "a class of diverse chemical compounds that act on cannabinoid receptors in cells that modulate neurotransmitter release in the brain."[75]

However, at least in the United States, when it comes to 1. enacting the broad level of testing required to ensure public safety—whether it be medical, recreational, or industrial use of cannabis—and 2. researching and better understanding the pharmacokinetics and pharmacodynamics (medical use and benefit) of cannabinoids in the human population, many have argued that laboratory testing of cannabis is still in its infancy[76][77][78][79][80][81] and evidence-based research of marijuana continues to be slow and bogged down in regulation.[82][83][84][85][86] As such, legally researching and analyzing the chemical constituents of cannabis is a complicated task, with much more work to be done.

Regulation and method standardization woes aside, cannabis is also difficult to analyze due to its matrix, and the task becomes even more difficult when it's added to food and other matrix types, requiring established and consistent methods for testing.[87][88] Regulators, patients, and the testing industry are all calling for improved standardization of both the production and testing of medical and recreational cannabis. Without proper testing, several issues are bound to arise[77][78][76][89][90][91]:

  • label claims may not match actual contents;
  • contaminants may linger, causing illness or even death;
  • chemical properties and medicinal benefits of specific strains and their unique cannabinoid-terpene profiles can't be isolated; and
  • research on potential therapeutic qualities can't be replicated, hindering scientific progress.

Cannabis testing labs are increasingly common in regions and countries where legalization efforts have reached fruition. In particular, the labs analyzing medical cannabis are vitally important for ensuring the best outcomes of patient health. These labs are responsible for analyzing many of the constituents of cannabis, including cannabinoids, terpenes, and contaminates (e.g., pesticides, solvents, heavy metals, mycotoxins, and microorganisms). The test equipment and methods used for these analyses continue to develop and evolve. Testing for cannabinoids may involve chromatography methods such as high-performance liquid chromatography with UV detection (HPLC-UV) or supercritical fluid chromatography (SFC)[90][92], while terpene analysis requires various forms of specialized gas chromatography.[90][93] And heavy metal analysis typically involves some sort of inductively coupled plasma mass spectrometry.[90][92][93]


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Citation information for this chapter

Chapter: 1. Introduction to medical diagnostics and research laboratories

Title: Laboratory Informatics Buyer's Guide for Medical Diagnostics and Research

Edition: 2022 Edition

Author for citation: Shawn E. Douglas

License for content: Creative Commons Attribution-ShareAlike 4.0 International

Publication date: January 2022