Preventative Health: Biomarkers and Genetic Tests for Personalised Care

Synopsis

This article explains how preventative healthcare is shifting from reactive treatment to proactive, personalised care through biomarkers and genetic testing. It covers the range of advanced biomarkers now available (proteomic, metabolomic, epigenomic, neurological, imaging, digital, and liquid biopsy), describes the most clinically useful genetic tests accessible in Hong Kong (whole exome/genome sequencing, hereditary cancer panels, pharmacogenomic testing, NIPT, APOE ε4, and Fragile X), and outlines how precision data translates into practical health strategies across lifestyle optimisation, targeted disease prevention, and longevity tracking.

Medicine is changing rapidly. Rather than waiting for illness to appear, we now have tools to understand your individual biology long before symptoms develop. This approach, known as P4 medicine (Predictive, Preventive, Personalised, and Participatory), is reshaping how doctors and patients work together. In Hong Kong, where access to advanced health technology is excellent, biomarkers and genetic tests are opening new possibilities for personalised, preventative care.

Advanced Cellular Biomarkers: Tracking Real-Time Health Changes

While genetic tests reveal your fixed inherited blueprint, biomarkers tell the story of how your biology is functioning right now. A biomarker is any objectively measured characteristic that reflects a normal biological process, a disease process, or a response to treatment.

The range of biomarkers available today extends far beyond traditional blood tests, and each layer provides different information:

Biomarker type	What it measures	Examples
Proteomic (proteins)	Disease activity, organ function	Troponin, NT-proBNP, CRP, HbA1c, PSA
Metabolomic (metabolites)	Downstream effects of diet, lifestyle, disease	Branched-chain amino acids, Lp(a), short-chain fatty acids
Epigenomic and ageing	Gene regulation and cellular ageing	DNA methylation patterns, biological age clocks, telomere length
Neurological (blood-based and genetic)	Brain protein changes and genetic risk	Plasma p-tau 217, APOE ε4 genotype
Imaging	Structural disease markers	CT coronary artery calcium (CAC) score
Digital	Real-world health data from wearables	Continuous glucose monitoring, heart rate variability, VO2 max
Liquid biopsy (circulating DNA)	Cancer signals in the bloodstream	Circulating tumour DNA (ctDNA)

Each of these layers contributes something different: some reflect fixed biology, others change in response to lifestyle, environment, and treatment over time.

Epigenetic clocks estimate your biological age from DNA methylation patterns in your blood. Research shows that a biological age higher than your chronological age is strongly predictive of earlier onset of disease and reduced lifespan. Importantly, epigenetic marks can be modified by lifestyle, making them a measurable feedback tool for the impact of your daily habits.

Genetic Testing in Hong Kong: Mapping Your Blueprint for Disease Prevention

Your genes form the foundation of your health. A genetic test analyses your DNA to reveal variations that may raise your risk of certain conditions, influence how your body responds to medicines, or identify inherited traits you could pass on to your children.

The most clinically useful genetic tests currently available in Hong Kong include:

Whole exome sequencing (WES) and whole genome sequencing (WGS): comprehensive maps of your protein-coding genes (WES) or entire DNA (WGS), particularly valuable for diagnosing rare or undiagnosed conditions.
Hereditary cancer panels: tests for inherited variants such as BRCA1 and BRCA2 (associated with breast and ovarian cancer), which can guide decisions about enhanced screening or preventive surgery.
Pharmacogenomic (PGx) testing: Reveals how your genes affect your response to medicines. A key example is testing the CYP2C19 gene before prescribing Clopidogrel, a common stroke-prevention drug. Because certain genetic variants prevent this medication from activating, pre-screening ensures patients receive effective blood clot protection rather than a standard dose that may fail.
Non-invasive prenatal testing (NIPT): a blood test in pregnancy that analyses fragments of the baby's DNA to screen for chromosomal conditions.
APOE ε4 genetic testing: the APOE ε4 (apolipoprotein E epsilon 4) variant is the strongest known genetic risk factor for late-onset Alzheimer's disease. Carrying one copy increases risk approximately three-fold, making it a valuable consideration for people with a family history of dementia.
Fragile X testing: Fragile X syndrome is the most common inherited single-gene cause of intellectual disability and autism spectrum disorder (ASD); testing for the FMR1 gene mutation is recommended for children presenting with developmental delay or ASD.

One important note: genetic testing works best with proper counselling before and after the test. A trained genetic counsellor helps you understand your results in context, supports you emotionally, and guides next steps.

Personalised Care Strategies: Turning Precision Data into Longevity

Knowing your genetic profile and biomarker results only creates value when it leads to action. The goal is to match the right information to the right intervention for you as an individual, rather than applying one-size-fits-all population guidelines.

Here is how precision data translates into practical decisions:

1. Everyday Lifestyle Optimisation

Dietary personalisation: Nutrigenomics guides choices like optimal fat intake, folate supplementation, or caffeine tolerance based on your specific genetic variants.
Exercise prescription: Wearables tracking heart rate variability and VO2 max allow clinicians to tailor exercise to your actual physiological recovery.
Gut health: Microbiome testing and short-chain fatty acids (SCFAs) map your gut bacterial composition to guide personalised dietary and probiotic steps.

2. Targeted Disease Prevention

Cardiovascular risk refinement: A CAC score and Lp(a) blood test provide deep cardiovascular risk data far beyond basic cholesterol testing.
Dementia risk assessment: A plasma p-tau 217 blood test identifies early signs of Alzheimer's pathology years before memory problems appear.
Medication safety: Pharmacogenomic testing ensures you receive prescriptions perfectly matched to your metabolic genetic profile.

3. Advanced Longevity Tracking

Cancer monitoring: Liquid biopsy blood tests detect circulating tumour DNA to monitor for recurrence continuously without invasive procedures.
Cellular ageing: Telomere length and epigenetic age testing provide a motivating personal measure of your true biological ageing.

Discuss with your doctor which tests are evidence-based and actionable for your situation, as the greatest benefit comes when results are matched to your individual biology and health goals in partnership with a clinician you trust.

The future of good health in Hong Kong is not simply about living longer; it is about using the best available science to live better, with care that is as individual as you are.

Glossary

To help you navigate your health data, the clinical abbreviations are explained below.

What is APOE ε4?

Apolipoprotein E epsilon 4, a gene variant linked to an increased risk of Alzheimer’s disease).

What is CAC?

Coronary Artery Calcium, a heart scan that measures calcium buildup in your arteries.

What is CRP?

C-Reactive Protein, a blood test marker that measures general inflammation in the body.

What is ctDNA?

Circulating Tumor DNA, fragments of DNA shed by tumour cells into the bloodstream.

What is CYP2C19?

A liver enzyme gene that controls how your body activates common medications, such as blood thinners.

What is HbA1c?

Haemoglobin A1c, a standard blood test tracking your average blood sugar over three months.

What is Lp(a)?

Lipoprotein(a), a specific type of inherited cholesterol particle that impacts cardiovascular risk.

What is NIPT?

Non-Invasive Prenatal Testing, a screening test looking at fetal DNA within a pregnant mother's blood.

What is NT-proBNP?

N-Terminal Pro-Brain Natriuretic Peptide, a blood marker released by the heart when it is under stress or stretching.

What is PGx?

Pharmacogenomics, the study of how your individual genes affect your response to medications.

What is PSA?

Prostate-Specific Antigen, a protein blood test primarily used to screen for prostate conditions.

What are SCFAs?

Short-Chain Fatty Acids, beneficial compounds produced by your gut bacteria during fermentation.

What is VO2 Max?

Maximal Oxygen Uptake, the maximum amount of oxygen your body can utilise during intense exercise.

What are WES / WGS?

Whole Exome Sequencing / Whole Genome Sequencing, advanced genetic technologies that decode portions or the entirety of your DNA blueprint.

Dr Shiba Poon

General Practice, Family Medicine

LMCHK
MBBS (Lond)
DRCOG
DCH (RCPCH)
PGDipClinDerm (Lond)
MRCGP
Honorary Clinical Assistant Professor In Family Medicine (HKU)

View Profile

Health Articles by Dr Shiba Poon

References

Hood, L. and Friend, S.H. (2011) 'Predictive, personalized, preventive, participatory (P4) cancer medicine', Nature Reviews Clinical Oncology, 8(3), pp. 184–187. doi:10.1038/nrclinonc.2010.227. Available at: https://www.nature.com/articles/nrclinonc.2010.227 (Accessed: 24 August 2026).
Levine, M.E., Lu, A.T., Quach, A., Chen, B.H., Assimes, T.L., Bhatt, S., Hou, L., Baccarelli, A.A., Stewart, J.D., Li, Y., Whitsel, E.A., Wilson, J.G., Reiner, A.P., Aviv, A., Lohman, K., Liu, Y., Ferrucci, L. and Horvath, S. (2018) 'An epigenetic biomarker of aging for lifespan and healthspan', Aging (Albany NY), 10(4), pp. 573–591. doi:10.18632/aging.101414. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC5940111 (Accessed: 24 August 2026).
Nurchis, M.C., Altamura, G., Riccardi, M.T., Radio, F.C., Chillemi, G., Bertini, E.S., Garlasco, J., Tartaglia, M., Dallapiccola, B. and Damiani, G. (2023) 'Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment', Archives of Public Health, 81, p. 93. doi:10.1186/s13690-023-01112-4. Available at: https://archpublichealth.biomedcentral.com/articles/10.1186/s13690-023-01112-4 (Accessed: 24 August 2026).
Ewans, L.J., Minoche, A.E., Schofield, D., Shrestha, R., Ohnesorg, T., Dorani, N., Hakeem, N., Impey, K., Gomez-Osorio, I. and Jaffe, A. (2022) 'Whole exome and genome sequencing in Mendelian disorders: a diagnostic and health economic analysis', European Journal of Human Genetics, 30(10), pp. 1121–1131. doi:10.1038/s41431-022-01162-2. Available at: https://www.nature.com/articles/s41431-022-01162-2 (Accessed: 24 August 2026).
National Comprehensive Cancer Network (2024) NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic (Version 3.2024). Plymouth Meeting, PA: NCCN. Available at: https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1545 (Accessed: 24 August 2026).
Lee, C.R., Luzum, J.A., Sangkuhl, K., Gammal, R.S., Sabatine, M.S., Stein, C.M., Kisor, D.F., Limdi, N.A., Lee, Y.M., Scott, S.A., Hulot, J.-S., Roden, D.M., Gaedigk, A., Caudle, K.E., Klein, T.E., Johnson, J.A. and Shuldiner, A.R. (2022) 'Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2C19 Genotype and Clopidogrel Therapy: 2022 Update', Clinical Pharmacology & Therapeutics, 112(5), pp. 959–967. doi:10.1002/cpt.2526. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC9287492 (Accessed: 24 August 2026).
Corder, E.H., Saunders, A.M., Strittmatter, W.J., Schmechel, D.E., Gaskell, P.C., Small, G.W., Roses, A.D., Haines, J.L. and Pericak-Vance, M.A. (1993) 'Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families', Science, 261(5123), pp. 921–923. doi:10.1126/science.8346443. Available at: https://www.science.org/doi/10.1126/science.8346443 (Accessed: 24 August 2026).
Mol, M.O., van der Lee, S.J., Hulsman, M., van Rooij, J.G.J., Haaksma, M.L., Holstege, H., Scheltens, P., Reinders, M.J.T., Louwersheimer, E. and van der Flier, W.M. (2022) 'Mapping the genetic landscape of early-onset Alzheimer's disease', Alzheimer's Research & Therapy, 14, p. 77. doi:10.1186/s13195-022-01018-3. Available at: https://alzres.biomedcentral.com/articles/10.1186/s13195-022-01018-3 (Accessed: 24 August 2026).
Hyman, S.L., Levy, S.E. and Myers, S.M.; Council on Children with Disabilities, Section on Developmental and Behavioral Pediatrics (2020) 'Identification, Evaluation, and Management of Children With Autism Spectrum Disorder', Pediatrics, 145(1), p. e20193447. doi:10.1542/peds.2019-3447. Available at: https://publications.aap.org/pediatrics/article/145/1/e20193447/36917 (Accessed: 24 August 2026).
Kaufmann, W.E., Kidd, S.A., Andrews, H.F., Budimirovic, D.B., Esler, A., Haas-Givler, B., Stackhouse, T., Riley, C., Peacock, G., Sherman, S.L., Brown, W.T. and Berry-Kravis, E. (2017) 'Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment', Pediatrics, 139(Suppl 3), pp. S194–S206. doi:10.1542/peds.2016-1159H. Available at: https://publications.aap.org/pediatrics/article/139/Supplement_3/S194/34155 (Accessed: 24 August 2026).
Ferguson, L.R., De Caterina, R., Görman, U., Allayee, H., Kohlmeier, M., Prasad, C., Choi, M.S., Curi, R., de Luis, D.A., Gil, Á., Kang, J.X., Martin, R.L., Milagro, F.I., Nicoletti, C.F., Nonino, C.B., Ordovas, J.M., Parslow, V.R., Portillo, M.P., Santos, J.L., Serhan, C.N., Simopoulos, A.P., Velázquez-Arellano, A., Zulet, M.A. and Martinez, J.A. (2016) 'Guide and Position of the International Society of Nutrigenetics/Nutrigenomics on Personalised Nutrition: Part 1 — Fields of Precision Nutrition', Journal of Nutrigenetics and Nutrigenomics, 9(1), pp. 12–27. doi:10.1159/000445350. Available at: https://karger.com/jnn/article/9/1/12/182050 (Accessed: 24 August 2026).
Zmora, N., Suez, J. and Elinav, E. (2019) 'You are what you eat: diet, health and the gut microbiota', Nature Reviews Gastroenterology & Hepatology, 16(1), pp. 35–56. doi:10.1038/s41575-018-0061-2. Available at: https://www.nature.com/articles/s41575-018-0061-2 (Accessed: 24 August 2026).
Chambers, E.S., Preston, T., Frost, G. and Morrison, D.J. (2018) 'Role of Gut Microbiota-Generated Short-Chain Fatty Acids in Metabolic and Cardiovascular Health', Current Nutrition Reports, 7(4), pp. 198–206. doi:10.1007/s13668-018-0248-8. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC6244749 (Accessed: 24 August 2026).
Arnett, D.K., Blumenthal, R.S., Albert, M.A., Buroker, A.B., Goldberger, Z.D., Hahn, E.J., Himmelfarb, C.D., Khera, A., Lloyd-Jones, D., McEvoy, J.W., Michos, E.D., Miedema, M.D., Muñoz, D., Smith, S.C., Virani, S.S., Williams, K.A., Yeboah, J. and Ziaeian, B. (2019) '2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease', Circulation, 140(11), pp. e596–e646. doi:10.1161/CIR.0000000000000678. Available at: https://www.ahajournals.org/doi/10.1161/cir.0000000000000678 (Accessed: 24 August 2026).
Nordestgaard, B.G., Chapman, M.J., Ray, K., Borén, J., Andreotti, F., Watts, G.F., Ginsberg, H., Amarenco, P., Catapano, A., Descamps, O.S., Fisher, E., Kovanen, P.T., Kuivenhoven, J.A., Lesnik, P., Masana, L., Reiner, Z., Taskinen, M.R., Tokgözoglu, L. and Tybjærg-Hansen, A. (2010) 'Lipoprotein(a) as a cardiovascular risk factor: current status', European Heart Journal, 31(23), pp. 2844–2853. doi:10.1093/eurheartj/ehq386. Available at: https://academic.oup.com/eurheartj/article/31/23/2844/2398484 (Accessed: 24 August 2026).
Therriault, J., Brum, W.S., Trudel, L., Macedo, A.C., Bitencourt, F.V., Castro Martins-Pfeifer, C., Nakouzi, M., Pola, I., Wong, M., Kac, P.R., Real, A.P., Witherow, C., Karikari, T.K., Moscoso, A., Zimmer, E.R., Schöll, M., Pascoal, T., Benedet, A.L., Ashton, N.J., Schindler, S.E., Zetterberg, H., Blennow, K. and Rosa-Neto, P. (2025) 'Blood phosphorylated tau for the diagnosis of Alzheimer's disease: a systematic review and meta-analysis', The Lancet Neurology, 24(9), pp. 740–752. doi:10.1016/S1474-4422(25)00227-3. Available at: https://www.sciencedirect.com/science/article/pii/S1474442225002273 (Accessed: 24 August 2026).
Siravegna, G., Marsoni, S., Siena, S. and Bardelli, A. (2017) 'Integrating liquid biopsies into the management of cancer', Nature Reviews Clinical Oncology, 14(9), pp. 531–548. doi:10.1038/nrclinonc.2017.14. Available at: https://www.nature.com/articles/nrclinonc.2017.14 (Accessed: 24 August 2026).