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When a physician orders a genetic test, the report that comes back rarely settles anything on its own. It lists findings but does not clarify which ones matter for this patient, how to explain the results to a family still in the room, or what the next clinical step should be. That interpretive gap is where diagnoses stall and care decisions drift without firm ground. Cligen, a medical genetics clinic founded in Vitória, Brazil, in 2021, was built to close that gap.

“We are a clinic before we are a laboratory,” says Dr. Arsonval Lamounier Júnior, medical director. “We place the patient and their family at the center of our approach.”

That orientation changes what a physician receives. Every genetic report arrives with a clinical case interpretation. The Cligen team reviews the findings, evaluates the literature relevant to the presentation and calls the referring physician directly. The effect is that, instead of filing the report, deferring to a specialist, or delaying a care decision, the clinician gains a colleague ready to reason through the result in real time. That conversation is what turns a genetic finding into a clinical action.

Cligen also maps its referring network, recognizing that physicians vary widely in their comfort with genetics. Those working near the limits of their genomic training receive targeted education, invitations to scientific meetings and direct collaboration on complex cases. As clinicians gain confidence, they order more appropriate tests, interpret results more accurately and deliver better care. Each interaction strengthens the network’s collective genomic literacy.

The same logic shapes Cligen’s test portfolio. Rather than offering an overwhelming catalog, the clinic curates high-quality, certified assays with broad gene coverage, organized by clinical presentation. The diagnostic strategy follows the clinical question, ensuring that the right test reaches the right patient without delay.

What Blood Could Not Show

Cligen’s approach matters most when a case resists resolution. A newborn presented with bilateral epibulbar ocular tumors and cutaneous lesions arranged along the lines of Blaschko, sharply respecting the midline. Whole exome sequencing on peripheral blood had returned negative. Without a different strategy, the child’s condition would have remained undiagnosed and no clear clinical path forward existed.

Barnafi Krause Laboratory (BKLAB) combines deep expertise in genetic testing and precision medicine with hands-on experience in next-generation sequencing (NGS). Dedicated to serving clinical laboratories, clinics, and hospitals across Latin America, BKLAB delivers highly complex tests with accuracy and reliability.

From its earliest years, BKLAB has focused on adopting advanced tools and techniques while continuously monitoring global scientific developments. The team reviews international studies and the work of leading centers to identify technologies worth implementing, and evaluates each innovation carefully before integrating it into the laboratory’s workflows.

For sequencing, BKLAB relies on Illumina platforms supported by advanced bioinformatics solutions from Golden Helix (Bozeman, MT). This commitment is reinforced by ongoing improvements in pre-analytical and analytical processes and continuous training for its technical and support staff.

“Our advanced technology, together with our specialized teams, guarantees excellence in every process,” says Andrea Barnafi, CEO of BKLAB.

Belonging to international quality networks is a cornerstone of BKLAB’s approach. These affiliations provide objective evidence that its processes meet the highest technical and legal standards.

It collaborates with the College of American Pathologists (CAP), the European Molecular Genetics Network (EMQN), and the European Research Initiative on CLL (ERIC) and participates in congresses such as ADML. The laboratory will also present a poster at the American Society of Human Genetics (ASHG) in Boston in 2025.

BKLAB’s work is powered by next-generation sequencing, real-time PCR, and mass spectrometry. These technologies, combined with the expertise of its specialized teams, ensure accuracy and reliability. The laboratory also participates in international intercomparison programs, which serve as quality benchmarks and as opportunities to validate its practices on a global stage.

Founded in 2019 and headquartered in Guatemala City, BIOTI has positioned itself at the forefront of preventive cancer diagnostics and genetic testing in Latin America.

Co-founded by Dr. Sebastián Yurrita, director of the genetic laboratory and expert in human genetics and genomics, the company has redefined how early detection and precision medicine are delivered across the region. By harnessing cutting-edge technologies and tailoring solutions to the unique challenges of Latin American healthcare systems, BIOTI has built a reputation for innovation, accessibility, and life-saving impact. To achieve this, BIOTI is leveraging advanced genetic testing and molecular diagnostics to detect cancer years before tumors develop.

“By revealing cancer early and guiding the right treatment, we give patients peace of mind, better survival chances, and protection from the crushing costs of late-stage care,” says Yurrita.

The results of early detection speak volumes. BIOTI’s advanced genetic techniques can even project risks decades into the future, enabling physicians to select the most effective drug therapies for each unique case. Another hallmark of the company’s work is the breadth of its diagnostic capabilities. BIOTI offers more than 800 different genetic tests that cover fields ranging from oncology and pediatrics to cardiology, neurology, endocrinology, rheumatology, gynecology, and nutrition.

Rather than relying on years of trial-and-error diagnostics, it enables physicians to identify a patient’s condition with a single comprehensive test. This saves valuable time, reduces healthcare costs, and allows for rapid, accurate treatment. Importantly, BIOTI has also made affordability a core part of its mission, recognizing that equitable access to genetic testing is essential in a region where healthcare inequality remains a pressing challenge.

The functional health and wellness market continues to expand as consumers seek products that support their daily health goals through nutrition. People are no longer satisfied with products that only address deficiencies. They seek supplements that fit into active lifestyles and promote energy, digestive health, immune support, cognitive performance and healthy aging. This shift has encouraged companies to develop advanced formulations that combine scientific quality and convenience. Every supplement manufacturer plays a central role in meeting these expectations by creating products that align with changing consumer preferences while maintaining high standards of safety and consistency.

Innovation has become an important driver of growth in functional wellness. Manufacturers continue exploring botanical extracts, probiotics, vitamins, minerals, amino acids and other specialty ingredients that provide targeted health support. They also invest in research to understand how ingredients interact and how delivery systems influence absorption. These efforts allow companies to introduce products that fit different lifestyles while maintaining product effectiveness.

Advancing Product Innovation Through Research

Scientific research forms the foundation of successful supplement development. Manufacturers work with researchers, formulation specialists and quality professionals to translate emerging nutritional knowledge into practical consumer products. This collaborative approach helps identify ingredients with strong scientific support while ensuring formulations remain stable and effective throughout their shelf life.

Ingredient combinations are carefully selected to support specific wellness objectives. Products designed for digestive wellness may combine probiotics with plant based fibers while formulations for healthy aging may include antioxidants and vitamins that contribute to overall wellness. Companies continue refining these combinations as research expands our understanding of nutrition.

Manufacturing technology continues to evolve. Advanced processing systems in modern manufacturing streamline and automate blending, batching, and packaging. Automated systems help minimize production variability, maximizing consistency from batch to batch and creating greater trust and reliability across more product categories.

The established manufacturing capabilities and technologies have enabled delivery formats beyond traditional tablets and capsules. More convenient formats, such as gummies, powders, liquid concentrates, chewables, and functional drink mixes, are more regularly used as consumables. So are formats that integrate wellness routines. Improvements in texture and flavor have led to better systems for maintaining product quality.

Manufacturing regulations help ensure consistency and safety for consumers. This leads manufacturers to create and maintain adequate documentation and to verify all ingredients and their sources. Internal audits and evaluations of all suppliers, along with the continuous monitoring of all processes, help ensure and maintain compliance and integrity. This is especially useful for navigating upcoming and evolving manufacturing and processing regulations.

Building Consumer Trust Through Quality

Trust remains one of the strongest competitive advantages within the wellness market. Consumers often make purchasing decisions based on brand reputation, ingredient transparency and manufacturing reliability. Companies, therefore, invest heavily in quality assurance systems that demonstrate their commitment to producing dependable supplements.

Every stage of production includes quality checkpoints designed to verify ingredient identity, product consistency and finished product performance. Laboratory testing supports these efforts by confirming that products meet established specifications before reaching retailers and consumers. Traceability systems further strengthen confidence by allowing manufacturers to monitor ingredients from sourcing through final distribution.

Clear labeling also contributes to consumer confidence. Well-designed labels explain ingredient content, serving recommendations and storage instructions in an understandable format. Educational materials help consumers make informed decisions while encouraging responsible supplement use as part of an overall wellness routine.

Expanding the Future of Functional Wellness

The development of functional wellness will require a commitment to innovation and a commitment to the science behind wellness. Manufacturers are beginning to offer personalized nutrition that incorporates dietary preferences, wellness goals, and lifestyle choices. This offers greater flexibility in product options and is intended to appeal to broader groups of consumers.

Research into the ingredients that promote wellness is progressing, and so are the product options available to manufacturers and consumers. Plant-derived compounds, additional nutrients, and more fermented products will increasingly be added to available options as understanding of the science continues. Caution is important when considering the use of these innovations in commercial products.

Advancements in the global supply chain will positively impact the development of new products. Fermentation and cultivation from many different regions will provide high quality, diverse, and reliable ingredients. This benefits both consumers and manufacturers.

Product and service innovations will fail without consumer education. People want to be educated on how the ingredients and products will function. Clear communication and science-based honesty will promote long-term relationships with customers.

Education will remain equally important as product innovation. Consumers increasingly value information that explains ingredient functions, recommended usage and realistic wellness expectations. Companies that communicate clearly while supporting scientific credibility strengthen long term customer relationships and encourage informed purchasing decisions.

As the wellness industry continues evolving, manufacturers will remain essential partners in helping consumers pursue healthier lifestyles. Their commitment to research, quality, transparency and responsible production supports steady market growth while encouraging confidence in nutritional products. A dedicated supplement manufacturer that combines scientific expertise with reliable manufacturing practices can continue delivering solutions that meet changing wellness needs. Through ongoing innovation responsible sourcing and a strong commitment to quality the industry is well positioned to support the expanding functional health and wellness market for years to come.

Healthcare is transforming from a one-size-fits-all approach to a precise, personalized, and predictive model powered by genetic testing. Once confined to the specialized realms of academic research or the diagnosis of rare hereditary conditions, genomic insights are rapidly becoming a cornerstone of clinical practice and pharmaceutical innovation. Within this global shift, Latin America is emerging as a particularly significant arena, demonstrating how genetic understanding is evolving from a scientific niche into a clinical necessity.

The Expansion of Clinical Utility From Rare Disease to Common Practice

The initial applications of genetic testing were highly focused. They were the tools of specialists, used to confirm suspected monogenic disorders—conditions caused by a single gene mutation. While critically important to affected families, this application represented only a narrow slice of healthcare. The sea change we are witnessing today is driven by the expansion of genetic insights into virtually every corner of medicine, particularly in two major fields: oncology and pharmacogenomics.

In oncology, genetic testing has become indispensable. The understanding that cancer is a disease of the genome has shifted the entire diagnostic and therapeutic framework.³ Rather than classifying a tumor based solely on its location in the body (e.g., breast, lung, colon), clinicians now routinely use genetic sequencing to identify the specific driver mutations fueling its growth. This molecular profiling enables the selection of targeted therapies designed to attack the cancer's specific genetic vulnerabilities. This approach leads to more effective treatment strategies. It moves beyond the blunt-instrument tactics of traditional chemotherapy, heralding a new era of personalized cancer care that is gaining significant traction at Latin America's major medical centers.

Pharmacogenomics (PGx) provides the scientific basis for "the right drug, for the right patient, at the correct dose. It is a well-established fact that medications do not work the same way for everyone; some people experience severe side effects, while others derive no benefit at all.⁷ Genetic testing can now identify variations in genes—particularly those coding for metabolic enzymes—that predict these responses.

Clinicians are increasingly using PGx panels before prescribing common medications, including certain antidepressants, cardiovascular drugs, and pain relievers. This simple genetic insight can prevent adverse drug reactions, improve the efficacy of a treatment from day one, and save valuable time and resources previously lost to trial-and-error prescribing. As awareness and implementation grow, pharmacogenomic testing is setting a new standard of care, ensuring safety and efficacy are personalized to a patient's genetic profile.

Reshaping the Pharmaceutical Pipeline: A New Blueprint for Drug Discovery

The impact of genetic testing extends well beyond clinical practice, fundamentally reshaping the pharmaceutical industry's research and development (R&D) paradigm. The integration of human genomics is now systematically reducing these risks and ushering in a new era of precision medicine. Genetic data serves as a powerful instrument for target identification and validation—by analyzing large-scale genomic datasets, researchers can uncover genes and biological pathways directly associated with disease. This “genetics-first” approach ensures that potential drug targets are validated by human biology rather than theoretical models, substantially increasing the likelihood of clinical success.

With genetic testing, trials can now be “biomarker-driven,” enrolling patients based on their genetic profiles or the molecular characteristics of their disease. This approach enhances efficacy by focusing on individuals most likely to respond to treatment, enabling smaller, faster, and more statistically robust trials. It also drives the parallel development of companion diagnostics—genetic tests designed to identify patients eligible for a specific therapy—thereby embedding precision testing into the standard of care.

This genomics-driven R&D model is no longer conceptual but an active reality shaping pharmaceutical pipelines worldwide. Companies are increasingly investing in targeted therapies for genetically defined populations, a strategy that enhances success rates, accelerates development timelines, and ultimately delivers more effective treatments from the laboratory to the patient’s bedside.

The Latin American Context

The integration of genetic medicine in Latin America is home to one of the world's most diverse and admixed populations. Generic models of disease and drug response, which are primarily based on studies of populations of European descent, are often incomplete or inaccurate when applied to individuals in Latin America. The specific genetic variants and frequencies found within these diverse populations can significantly influence disease susceptibility, progression, and response to treatment.

Recognizing this, there is a growing momentum within the region's scientific community to build genomic databases and research initiatives that reflect this unique diversity. By studying its own populations, Latin America can uncover novel genetic insights relevant to its people, driving the development of more effective and equitable precision medicine strategies. This localized research is crucial for identifying population-specific biomarkers and tailoring pharmacogenomic guidelines to ensure that drug therapies are optimized for all population segments. This focus on ancestral diversity is not only improving healthcare within the region but is also contributing invaluable knowledge to the global understanding of human genetics, making Latin America an indispensable partner in the future of genomic medicine.

The era of genetic testing as a peripheral or niche tool is decisively over. It has become a fundamental driver of medical progress, acting as the bridge between basic science and individualized patient care. In Latin America, this technology is not just being adopted; it is being integrated into the very fabric of the healthcare ecosystem. It empowers clinicians to make more precise diagnoses, enabling personalized cancer therapies and making drug prescriptions safer and more effective. Concurrently, it is providing the pharmaceutical industry with the map and compass needed to navigate the complex world of drug discovery, leading to more innovative and successful pipelines. The journey from niche to necessity is reshaping the future of health, and Latin America is emerging as a vital center in this global transformation.

The term ‘pharmacogenomics’ emerged in the early 2000s to encompass the broader study of how genetic variations influence drug response, including not only drug metabolism but also drug targets and pharmacodynamics. Advances in genomic technologies and bioinformatics have accelerated the discovery of genetic variants associated with response to a wide range of drugs.

Surveillance of drug safety concerning individual genetic variances in drug metabolism is key for pharmacogenomics.

Healthcare professionals may effectively mitigate risks associated with genetic variations and drug response, ultimately improving the quality of patient care and treatment outcomes. It involves a multidisciplinary approach that integrates genetics, pharmacology, epidemiology, and regulation to ensure the safe and effective use of drugs in genetically diverse populations.

History of Pharmacogenomics

In the 1950s-1970s studies in ‘pharmacogenetics’ focused on genetic variations and their influence on drug responses. During this time, researchers focused on identifying genetic variants associated with drug metabolism pathways, such as those involving drug-metabolizing enzymes like cytochrome P450.

In 2003 the completion of the Human Genome Project marked a significant milestone in the field of pharmacogenomics. This project provided a comprehensive map of the human genome, facilitating the identification of genetic variants associated with drug response and laying the foundation for personalized medicine approaches.

Role of Pharmacovigilance in Pharmacogenomics

Some key aspects of patient safety monitoring in pharmacogenomics include the collection and analysis of adverse drug reactions (ADRs) associated with pharmacogenomic factors. Monitoring the results of genetic testing allows healthcare providers to tailor treatment schemes to individual patient profiles. Genetic testing (preventive or reactive) may be conducted to identify patients who may be at higher risk of adverse drug reactions or treatment failure due to specific genetic variations. Gene therapy clinical systems integrated into electronic health record systems can provide real-time guidance to healthcare providers based on patients' genetic profiles. These systems can alert providers to potential drug-gene interactions, recommend alternative medications, or suggest dosage adjustments to minimize the risk of adverse events. Training programs can enhance patient safety by ensuring the appropriate use of genetic information in treatment planning.

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Deep research and surveillance efforts are essential for identifying new pharmacogenomic associations, assessing the clinical validity and utility of genetic testing, and monitoring long-term safety outcomes in realworld patient populations. Largescale studies and pharmacovigilance initiatives contribute to our understanding of the safety implications of pharmacogenomics.

Patient engagement plays an active role in monitoring their own safety in pharmacogenomics raising awareness about the importance of genetic testing and targeting a personalized treatment.

Challenges for Pharmacogenomics

Integration into clinical workflows from cross-functional healthcare providers qualified to interpret genetic test results and incorporate them into treatment decisions. Additionally, electronic health record systems must be adapted to accommodate pharmacogenomic data. Data privacy and security, pharmacogenomic testing generates sensitive genetic information that raises concerns about patient privacy and data security. The cost-effectiveness of testing and reimbursement models need to be carefully evaluated.

Challenges for Applicability of Pharmacovigilance in Pharmacogenomics

Genetic testing integration into pharmacovigilance practices allows for personalized drug therapy approaches. Generation of regulatory guidelines for ‘Pharmacogenomics and Pharmacovigilance’ are required to evaluate the safety and efficacy of pharmacogenomicbased therapies, and monitor post-market safety through pharmacovigilance activities such as the assessment and validation of genetic variations of the adverse drug reactions (ADRs) associated with genetic biomarkers specific to drug responses considering pharmacogenomic factors. Post-marketing surveillance in real-world populations assessing the risk of adverse events associated with specific drugs in individuals with certain genetic profiles is the key to aiming risk assessment and its management considering new associations between genetic variations and drug responses. The vision of consolidation of key data and collaboration among stakeholders shall improve understanding of the impact of genetic variations on drug safety and efficacy.

Future of Pharmacogenomics and Patient Safety

Overall, the potential of pharmacogenomics is bright, with the potential to significantly improve patient outcomes, reduce healthcare costs, and advance the practice of personalized and precise medicine. This personalized approach can improve treatment outcomes by minimizing adverse drug reactions and optimizing efficacy. Patients may need to understand the implications of their genetic results on drug therapy decisions for shared decisionmaking with their healthcare providers.

Pharmacogenomic testing will be more accessible and affordable with AI advances in sequencing technology and bioinformatics. Large-scale population-level studies, such as biobanks and genome-wide association studies may generate vast amounts of genetic data that may be used to identify and improve new pharmacogenomic associations. These studies will further enhance understanding of the genetic factors influencing drug response.

Advances in pharmacogenomics are driving the development of targeted therapies designed to treat diseases based on specific genetic mutations or variations. Healthcare providers may be selecting the most appropriate drug and dose for individual patients based on their genetic makeup. Pharmacogenomics has the potential to shift medicine towards a more preventative model by identifying individuals at higher risk of adverse reactions to specific drugs before they are prescribed.

At the end of 2020, amid the COVID Pandemic, my department was celebrating a win during what had been a very difficult year.    Despite clinic closures, a move to virtual visits, parents’ fears about bringing their kids out to public settings, and more, we had somehow managed to provide routine vaccinations to as many children in 2020 as in 2019.    This was before COVID vaccinations provided the confidence that brought many families back into Primary Care, so the fact that we were able to achieve this success despite the pandemic was cause for celebration.   It took a lot of effort, including vaccination tents, community events, replacing unused sick visit slots with more well visits, and copious amounts of texting and phone calls and patient portal messages and emails.   A lot of outreach.    More than we had ever done before.    

As the Director of Analytics and Technology for our Value-Based Services Organization at Nemours Children’s Health, my role in this work was to lead the team that identified the populations to target and help coordinate the messaging.    Active primary care patients, with a gap in care, not deceased, not contraindicated, XYZ age range, no “do not contact” communication preference, etc.  Our lead data analyst had a “rinse and repeat” query written to check all of the boxes for the different communication modalities, and filter the lists by geography/PCP/payer based on the specific gap in the care we were tackling at the time and clinic capacity.   Our job was also to measure and trend our performance for the HEDIS- related “Gap in Care” measures.    And by year-end we were celebrating.   We had improved our vaccination rate for the flu from under 38% to over 42% by year-end when compared to 2019.  This meant that an additional 5000 children had documented flu vaccines in 2020 compared to 2019 despite the Pandemic!  A win for sure (Note:  flu season runs from July to June, but we measure our progress at year-end because we typically administer the majority of our flu vaccines in the Fall before the Holidays).

By the end of 2020 we had hit 4 out of 5 of our prevention goals for the year, projected great scores and payouts from our Pay-for-Performance (P4P) contracts, and started the poster-and-conference submissions work to talk about how we did it all.   Soon after I was invited by two Nemours executives Dr. Kara Odom Walker EVP and Chief Population Health Officer, and Cindy Bo, SVP Delaware Valley Strategy to help support the creation of a new Health Equity Dashboard for Nemours Children’s Health, modeled after the great work by Children’s Minnesota.    After much debate, analysis, consideration and reconsideration we chose flu vaccination rate as one of our first three equity measures to examine across populations.   We knew there were disparities between populations, with a much lower vaccination rate among our African-American patients, so it seemed like a prime candidate.  The data was relatively easy to gather - it could be drilled down by location and physician, and the N was high – all good characteristics for an initial measure to learn from.   What we were not expecting from this equity analysis was to find that our great success during the 2020 flu season, built upon repeated texting, emailing and portal messages, did not result in improvements for our African-American patients.   In fact, despite the overall rate improvement, our disparity in flu vaccination rates for African-American patients actually got worse.

The Christ Hospital Health Network is a community-based health system comprised of both an inpatient facility and a variety of outpatient clinics and surgery centers.  Beginning in 2019, it implemented and scaled its ambulatory pharmacy program to include coverage across multiple practice areas, including primary care, orthopedics, oncology, and cardiology.  In addition, the program is pioneering comprehensive pharmacogenomic testing in the Cincinnati, OH, area.  Using novel practice models and advanced clinical decision support tools (CDSTs), the network is leading the way in integrated pharmacy care.

What is pharmacogenomics, and how does technology play a role?

Pharmacogenomics evaluates how a patient’s genes may impact the way they respond to medications, including efficacy and metabolism.  For example, patients may have a mutation in an enzyme that breaks down a particular drug.  If that mutation causes a loss of function for that enzyme, the patient will be a poor metabolizer of that drug and may encounter higher than desired drug levels.  This can lead to increased side effects and toxicity.  Conversely, if a patient has a higher than usual metabolism of drugs, they may not achieve sufficient drug levels to treat their condition.

Pharmacogenomics is a relatively new area of practice for most providers.  While the science and data behind pharmacogenomics have long been available, clinical implementation has been a struggle.  Plagued by historically long turnaround times, a lack of gene panel standardization, and a deficit in provider education, it has been an uphill battle to enmesh pharmacogenomics with everyday practice.

Thankfully, as technology has advanced, the processing speed of genetic testing has also greatly improved.  Comprehensive pharmacogenomic testing can be returned in a matter of weeks, and single gene testing can be run in a matter of hours.  In practice, this means that results can often be returned before medications are started, and any genetic interactions can be actively incorporated into the patient's therapy plan.

Providers have struggled with the varied gene panels and laboratories that are available.  Many labs will report on a small number of genes or report on only a small number of affected medications, often restricted by therapeutic area.  While easily digestible for the provider, this provides a false sense of confidence.  Providers may not realize that many indicated genes may not be tested or that interactions outside of a panel's specific therapeutic area may not be reported.  For example, if a patient receives testing for psychiatric pharmacogenomics, even if an identified gene mutation affects another drug used in cardiology, the provider would only be informed on psychiatric drug-gene interactions.  This leaves a great deal of risk for adverse effects beyond the targeted clinical area(s).  Exclusive selection of a panel that includes all guideline-indicated genes and is therapeutically agnostic removes such risk.  This has been the strategy of The Christ Hospital Health Network.  Providers no longer must search for specific panels and laboratories to find the information they are seeking but can select a single, easily located order that covers essentially all indicated genes and reports directly into the electronic health record (EHR) and CDST, where pharmacists work across the care team to optimize medication management.

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