The 2025 ADLM/CSCC Annual Scientific Meeting & Clinical Lab Expo, hosted by the Association for Diagnostics & Laboratory Medicine (ADLM), brought together global leaders in laboratory medicine, diagnostics, and healthcare innovation for an inspiring week of cutting-edge science, groundbreaking research, and transformative technology. As the premier event in the field, the 2025 ADLM/CSCC Conference offered a scientific program with unparalleled opportunities for professional development, collaboration, and discovery. A big thank you to the CSCC Annual Meeting Organization Committee for once again ensuring a successful meeting for our CSCC community.
Another big thank you goes out to our reporters who helped capture and summarize the plenary session presentations. Please see below for the list of reporters as well as their articles.
| Plenary Session (Date) | Reporter |
| Global strategies to advance genomic medicine (Jul 27) | Dr. Fahed Elian |
| Canada Symposium: Considerations for Continuous Glucose Monitor Usage in Hospital Settings (Jul 28) | Dr. Chien-Yi Lu |
| Infodemic! Is misinformation killing us? (Jul 29) | Dr. Daniel Choi |
| Precision microbiome medicine: Identifying diagnostics and treatments (Jul 30) | Dr. Peter Xu |
| The urgent threat of plastics to human health, and what we can do about it (Jul 31) | Dr. Sisu Han |
Global Strategies to Advance Genomic Medicine: Highlights from Dr. Heidi Rehm’s 2025 Wallace H. Coulter Lecture
Submitted by Fahed Elian, MSc PhD
“This work is only possible because of community. Of labs, researchers, and patients who share their data to move the field forward.”—Dr. Heidi Rehm
I still remember vividly during my undergraduate course on complex genome analysis, I raised my hand to answer a question posed during the lecture. The question was: how many genes have we identified since the Human Genome Project was completed? Confidently, I replied that we had identified roughly 30,000 genes with unique functions, and that the rest of the genome was considered “junk”, a term widely used in textbooks at the time to describe the noncoding portions of the genome whose functions were unknown. My professor responded thoughtfully, challenging the notion of “junk DNA.” He asked, from an evolutionary standpoint, why would our cells, arguably the most intelligent biological systems, carry this extensive genome across millions of years if it were truly useless? In that moment, it became clear to me that perhaps we resort to labeling things as “junk” simply because we lack the tools and understanding to decode their significance. What we define as “functional” or “coding” is ultimately shaped by the limitations of our knowledge.
This memory resurfaced during Dr. Heidi Rehm’s lecture at the 2025 ADLM Annual Meeting, where she offered a sweeping and incisive perspective on the untapped potential within the human genome. As Chief Medical Officer of the Broad Clinical Labs and a global leader in genomic data sharing, Dr. Rehm used this year’s Wallace H. Coulter Lecture to illustrate not just how far genomic medicine has come, but how much further it still needs to go.
She opened with a personal reflection on her first ADLM talk in 2012, where she boldly predicted that whole genome sequencing (WGS) would replace targeted next-generation sequencing (NGS) within four years. That prediction, she admitted with humility, was premature. Even today, many clinical laboratories still rely heavily on targeted panels and exome sequencing. However, her broader message, advocating for data transparency and shared variant interpretation, has aged remarkably well. At the time, most clinical variant data was siloed, and the notion of a centralized genomic resource was met with skepticism even from grant reviewers who questioned the value of curating rare variant data. “They didn’t understand clinical lab medicine,” she remarked. But the field pressed on, and the creation of resources like ClinVar and ClinGen became transformative. ClinVar alone now houses over 5.6 million submissions from more than 3,000 contributors across 92 countries, with 96% of the data submitted by clinical labs.
And yet, a staggering reality persists: over half of patients undergoing genetic testing for rare diseases still receive no diagnosis. The Rare Genomes Project, co-led by Dr. Rehm, is directly confronting this diagnostic gap. With more than 70,000 participants enrolled globally and over 300 novel gene discoveries to date, the project is not only a research juggernaut but also a model for inclusive participation. Many of the enrolled families had previously endured a diagnostic odyssey of exhaustive testing with no answers. Through the integration of exome and genome sequencing, RNA-seq, and targeted reanalysis, the project has achieved a diagnostic yield of 35% and climbing. One of the most eye-opening insights was the realization that genome sequencing adds approximately 9% diagnostic yield over exome, by detecting structural variants, deep intronic changes, and repeat expansions that exomes typically miss. She cited RNU4-2, a noncoding RNA gene responsible for nearly 0.4% of neurodevelopmental disorders, which eludes detection by exome but is clearly identified through genome analysis.
Despite the excitement around long-read sequencing technologies, Dr. Rehm expressed a healthy skepticism. Many of the purported advantages, she argued, are inflated by comparisons with outdated short-read datasets. She emphasized that the real value of long-read platforms will only become clear when population-scale data from those methods becomes available. In contrast, RNA sequencing—especially when derived from disease-relevant tissues—is already proving transformative. In several cases involving muscle disorders, her team solved mysteries that had stumped all previous testing modalities. In one particularly striking example, they identified a cryptic LINE-1 retrotransposon insertion in MTM1, a gene previously suspected but undetectable through conventional testing. In another, widespread intron retention in RNA-seq data led to the discovery of a previously unrecognized defect in minor spliceosome machinery. These breakthroughs reinforced a sobering truth: the variants are often there; we simply haven’t known how to look for them.
Reanalysis also plays a vital role. Her team found that annual re-review of unsolved cases yielded diagnoses in 18% of them. But with tens of thousands of unsolved cases, this task is impossible to scale manually. To that end, Dr. Rehm’s group developed Talos, an automated, open-source reanalysis tool in collaboration with Microsoft and Australian partners. Talos sifts through new gene-disease associations, ClinVar updates, and high-priority de novo variants. It has already proven its worth: in early validation, it recovered 86% of known past diagnoses and discovered new diagnoses in 5% of previously unsolved cases without the need for extensive human review.
She also addressed the shifting culture around data sharing. Platforms like Matchmaker Exchange, which she co-founded, now enable real-time gene-level matchmaking across nine international databases. In over a decade, it has facilitated more than 13,000 matches and contributed to over 1,000 novel gene discoveries. To protect contributors, the system only reveals gene candidates when a match is found, an elegant solution that encourages participation while preserving intellectual credit. Meanwhile, the Gene Curation Coalition (GenCC) dubbed “ClinVar for genes”, enables centralized sharing of gene-disease relationships, including those with limited evidence. These interconnected tools illustrate a robust federated model of discovery while balancing accessibility, credit, and collaboration.
One of the most persistent problems in clinical genetics is the high prevalence of variants of uncertain significance (VUS). In a North American study of 1.5 million tests, one-third yielded at least one VUS. New guidelines from ACMG/AMP/ClinGen aim to refine classification using a Bayesian, points-based system that subdivides VUS into low, mid, and high categories where only “VUS-high” variants require active follow up. In pilot studies, this framework allowed nearly 50% of VUSs to be downgraded to likely benign. In parallel, Dr. Rehm’s lab is using high-throughput splicing assays to validate suspected splice variants, achieving clinical reclassification in ~20% of tested cases.
Equity in genomic databases was a recurring theme. Global datasets like gnomAD are still skewed toward European ancestry, limiting their utility in diverse populations. To address this, Dr. Rehm’s group is piloting a federated version of gnomAD that enables countries like Brazil, Singapore, South Africa, and Canada to contribute population allele frequencies using harmonized pipelines without needing to share raw individual-level data. The end goal is a globally representative, privacy-preserving genomic infrastructure.
Dr. Rehm also previewed the next wave of evolution: variant-level matching. Unlike gene-level matchmaking, this allows users to search specific variants across global databases and view associated phenotypes in real time. Tools like Seqr, Franklin, and VariantMatcher are already implementing this approach, which not only streamlines variant interpretation but prevents misclassification and duplication of effort.
Finally, and perhaps most importantly, she turned to the clinical impact. For too long, genetic diagnoses have come with the caveat of “no treatment available.” That is changing. New gene-targeted therapies and the push for early diagnosis are starting to redefine what clinical genomics can offer. Even without a cure, a definitive diagnosis can reduce unnecessary testing, connect families to supportive communities, and guide reproductive decision-making. As she eloquently stated, the diagnostic odyssey may not always end in a treatment, but it often ends in clarity.
What resonated most deeply throughout her lecture was the reminder that none of these advances are possible in isolation. From the families who participate in research, to the laboratories that share data, to the clinicians and scientists building tools, progress in genomic medicine is a collective endeavor. It’s not just about the technologies we develop, it’s about the communities we build and the transparency we uphold in the pursuit of knowledge.
Canada Symposium: Considerations for Continuous Glucose Monitor Usage in Hospital Settings
Submitted by Dr. Chien-Yi Lu
Dr. Julie Shaw opened the session with an inspiring talk titled “Considerations for Continuous Glucose Monitor Usage in Hospital Settings.” She highlighted that continuous glucose monitoring (CGM) is increasingly being considered for hospitalized patients, offering near-continuous glucose trends and real-time alarms that improve detection of both hypo- and hyperglycemia compared with point-of-care testing (POCT). Dr. Shaw outlined several potential benefits of CGM, including reduced nursing workload, fewer finger sticks, and an enhanced patient experience. At the same time, she emphasized that implementing CGM in a hospital requires careful planning and structured evaluation. Key considerations include assessing analytical and clinical performance, ensuring patient safety, and aligning with quality frameworks. These factors underscore the need for hospital policies, staff training, and oversight from multidisciplinary committees. Dr. Shaw also noted important barriers, such as the lack of formal regulatory approval, challenges with data integration into electronic health records, and cost constraints.
Dr. Shaw’s presentation highlighted the pivotal role of Clinical Biochemists and laboratory professionals in evaluating device performance and guiding the safe, evidence-based adoption of CGM in hospital settings.
Infodemic! Is Misinformation Killing Us?
Submitted by Dr. Daniel Won-Shik Choi
At the 2025 ADLM/CSCC Annual Meeting in Chicago, Prof. Timothy Caulfield (University of Alberta) delivered a plenary session titled “Infodemic! Is Misinformation Killing Us?” He highlighted the rise of health misinformation, its threat to the scientific community and patient care, and the urgent need for collective action. “The time is now, this is urgent, let’s go!”
Prof. Caulfield described health misinformation as one of the greatest challenges of our time, causing confusion and risk-taking behaviours that can harm individuals’ health. He illustrated this with several examples, such as the persistent myth linking vaccines to autism, the mistrust surrounding COVID-19 vaccination, and numerous misleading “cancer cure” books readily available online.
He identified three main culprits fueling the current infodemic: 1) social media, 2) public mistrust of science, and 3) “bad science.” He explained that social media platforms promote misinformation through algorithms that amplify extreme content aligned with personal beliefs, regardless of scientific validity. Public mistrust has been growing with perceptions that experts lack consensus on key health topics. The misinformation can also be backed by “bad science,” including predatory journals that often bypass legitimate peer review processes. Articles from such sources are frequently used to market unproven products, a phenomenon he referred to as “scienceploitation,” the misuse of scientific language without sufficient scientific evidence.
In the final part of his session, Prof. Caulfield urged the audience to act. As misinformation can spread through social media, he first suggested taking breaks from social media, noting that even short pauses can improve how people process information. He then called upon the health professionals gathered in the room to speak up. “Silence won’t save science. We need everyone to speak up.” He recommended that the group communicate consensus within the scientific community to the public to counter health misinformation. He also introduced ScienceUpFirst, a digital platform he co-founded to share reliable, evidence-based health information with the public, and encouraged the audience to collaborate. “So yes, get out there and prebunk, get out there and debunk. It really does make a big difference.” He ended with an enthusiastic chant to overcome the current infodemic: “Go science!”
Translating Microbiome Research into Precision Medicine
Submitted by Dr. Peter Xu
The microbiome has become one of the most exciting frontiers in medicine, and Dr. Jack Gilbert’s plenary session at the 2025 ADLM/CSCC Conference highlighted how microbiome science is being translated from research into clinical practice. The “mechanisms, metrics, and modifiers” framework he presented brings much-needed clarity to this otherwise complex field.
It is astonishing how quickly microbiome science is being integrated into diagnostics and therapeutics, especially considering only a decade ago microbiome studies were primarily exploratory. Now, with the FDA-approval of therapies such as REBYOTA and VOWST for the treatment of recurrent Clostridioides difficile infection, the path forward for precision microbiome medicine is becoming increasingly clear.
Dr. Gilbert’s presentation offers a valuable opportunity to reflect on how the mechanisms, metrics, and modifiers framework shapes the field:
- Mechanisms: Research is uncovering how microbes interact with the immune system, metabolism, and even behavior. For example, microbial metabolites such as short-chain fatty acids (SCFAs) can regulate immune tolerance and inflammation. These mechanistic insights provide potential targets and pathways to guide the development of therapeutics.
- Metrics: Microbial features emerge as diagnostic and prognostic biomarkers. For instance, gastrointestinal microbial diversity may help predict immunotherapy outcomes, while the abundance of bacterial enzymes, such as proteases from P. vulgatus, correlates with disease severity in ulcerative colitis.
- Modifiers: Perhaps most exciting are the interventions that aim to modify microbial communities to improve health outcomes. Beyond fecal microbiota transplants, a variety of approaches are available, including probiotics, phage therapies, engineered microbial consortia, and precision nutrition. Personalized diets based on microbiome profiles are already showing promise in improving glucose control.
In short: mechanisms explain why the microbiome matters, metrics identifies what we can measure, and modifiers reveal how we can intervene. Dr. Gilbert used this framework to emphasize the central role of diet in human health, how it alters both the composition and metabolic activity of the microbiome, leading to immunological, metabolic, and even neurological effects.
Dr. Gilbert’s presentation inspired a renewed appreciation for how microbiome science is no longer a niche research area but a rapidly growing pillar of precision medicine. We are entering an era in which microbiome data could become routine in clinical practice. Microbiome-Wide Association Studies (MWAS), combined with quantitative multi-omic approaches, may soon enable clinical chemists to apply AI-driven tools to develop, validate, and standardize assays to aid microbiome therapy design, monitor treatment response, and much more.
Of course, microbiome medicine is not without its own set of challenges: defining a “healthy” microbiome across diverse populations, moving beyond stool samples to capture the full intestinal ecosystem, and navigating regulatory and cost barriers for new therapeutics.
A huge thank you to Dr. Gilbert and his colleagues for illustrating how microbiome research can help improve patient outcomes, and especially to Dr. Gilbert for his informative and thoughtful responses to questions and inquiries. To learn more about his translational clinical microbiome work, see:
Gilbert JA, et al. Clinical translation of microbiome research. Nat Med. 2025 Apr;31(4):1099-1113. doi: 10.1038/s41591-025-03615-9.
The urgent threat of plastics to human health and what we can do about it.
Submitted by Dr. Sisu Han
At the closing plenary of CSCC, Dr. Leonardo Trasande delivered a compelling talk on plastics as an urgent and expanding threat to both human health and planetary sustainability. He emphasized the paradox of plastics: while they are indispensable in medicine and lifesaving technologies, their non-essential uses have expanded rapidly. Production has increased globally, yet only 9% of plastics produced have been recycled. The majority are landfilled, exported, or burned, generating toxic byproducts such as dioxins, which are highly carcinogenic, as well as contributing to climate change and ecosystem disruption.
The central focus of his presentation was the impact of endocrine-disrupting chemicals (EDCs), which are substances that interfere with the body’s hormonal (endocrine) system. These include flame retardants, bisphenols, phthalates, and per- and polyfluoroalkyl substances (PFAS). By disrupting hormonal signaling, these compounds alter growth, development, metabolism, reproduction, and long-term health.
He described flame retardants that disrupt thyroid hormone function in pregnancy, impairing brain development and contributing to reduced IQ and neurodevelopmental disorders. Bisphenols, commonly used in food packaging, mimic estrogen and disrupt reproductive and metabolic pathways. Phthalates interfere with androgen signaling and metabolic regulation, with consequences such as premature birth, impaired growth, obesity, diabetes, and cardiovascular disease. PFAS, used in non-stick coatings and resistant materials, persist in the environment and human blood, and are linked to thyroid and reproductive dysfunction, pregnancy complications, cancers, and chronic illness.
Dr. Trasande emphasized that the National Academies of Sciences (2022) has recommended that exposed populations undergo serum PFAS testing, yet this guidance has not been widely implemented. He explained that ranges of serum PFAS concentrations should be used to guide clinical follow-up, with higher levels warranting more proactive monitoring for outcomes such as pregnancy complications, metabolic disorders, and certain cancers. He noted that PFAS testing is the first breakthrough that could bring environmental chemical testing into routine clinical medicine.
He stressed that solutions are both possible and effective. At the individual level, exposure can be reduced through practical choices such as limiting canned foods, reducing the use of plastic food containers, and opting for safer alternatives like stainless steel or glass. Improving indoor air circulation and filtration can also help lower chemical exposure through dust. These steps can result in measurable health benefits within days.
At the policy level, he called for stronger chemical regulation to prevent harmful substitutions, expanded monitoring of population exposures, and international cooperation through treaties to address plastics across their full life cycle. Such actions, combined with personal and community efforts, are essential to reduce preventable harm.
In closing, Dr. Trasande reminded the audience that while essential plastics will remain necessary, non-essential uses continue to drive avoidable exposures and chronic disease. Reducing them is critical to protecting public health and the health of future generations.
Take home messages:
- Plastics are a growing threat to human health and sustainability.
- The greatest harm comes from endocrine-disrupting chemicals (EDCs) within plastics.
- Key chemicals include flame retardants, bisphenols, phthalates, and PFAS.
- These disrupt hormonal systems, impairing brain development, reproduction, metabolism, and cardiovascular health.
- PFAS testing, as recommended by the National Academies of Sciences (2022), represents an important step toward integrating environmental chemical monitoring into clinical practice.
- Individual actions (e.g., reducing canned foods, avoiding plastic containers, choosing safer alternatives) can lower exposure quickly.
- Policy measures and international cooperation are essential to address plastics across their life cycle.
- Reducing non-essential plastic use is critical to protect public health and future generations.