Why is this component important for your Healthspan?
Metabolic Health — Systemic Disease Prevention
Beyond cancer and cardiovascular risk, many inherited conditions can quietly affect metabolism, the nervous system, connective tissues, blood vessels, and organ function. The “other” portion of this comprehensive panel includes all 81 genes identified as medically actionable by the American College of Medical Genetics and Genomics (ACMG), along with additional genes associated with conditions such as hereditary hemochromatosis, alpha-1 antitrypsin deficiency, Fabry disease, hereditary transthyretin amyloidosis, Ehlers-Danlos syndromes, Marfan and related aortopathies, malignant hyperthermia susceptibility, porphyria, Wilson disease, certain muscular dystrophies, and more. These conditions often have effective treatments or surveillance strategies when identified early—but can lead to organ damage, disability, or life-threatening events when missed.
Detecting a pathogenic or likely pathogenic variant in one of these genes can prompt earlier monitoring of organ function (for example, liver, kidney, nerve, or muscle), appropriate specialist referral, and timely initiation of therapies ranging from phlebotomy or enzyme replacement to lifestyle modifications and medication adjustments. For some conditions, like malignant hyperthermia susceptibility, genetic knowledge primarily functions as a safety flag—ensuring that anaesthesia teams avoid specific agents that could trigger a severe reaction. In all cases, the goal is the same: transform a silent, inherited vulnerability into an opportunity for prevention and preserved function across your lifespan.
What is this “other genes” panel?
This component aggregates genes associated with non-cancer, non-cardiac yet medically actionable conditions—meaning that evidence-based interventions exist to reduce morbidity and mortality when risk is known. Examples include genes involved in iron regulation (HFE, HJV, HAMP, TFR2), copper transport (ATP7B), lysosomal storage and metabolic pathways (GLA, GAA), connective tissue and vascular integrity (FBN1, COL3A1, TGFBR1, TGFBR2, SMAD3), coagulation and bleeding (F9, F11, SERPINA1 in the context of AATD-related lung and liver disease), neuromuscular function (DMD, RYR1), and others.
As with the rest of the Comprehensive Genetic Risk Assessment Panel, the laboratory reports only pathogenic and likely pathogenic variants. Benign, likely benign, and variants of uncertain significance are not included in the clinical report. If new data later clarify that a previously unreported variant is clinically significant, an updated report can be issued. These findings can clarify unexplained symptoms, confirm a suspected diagnosis, or identify silent risk before organ damage occurs. Because the variants are germline and heritable, results also inform family screening, family planning decisions, and long-term care planning.
How do we take action?
Genetic Counselling — Diet Enhancement — Stress Reduction
When a medically actionable variant is identified outside of the cancer and cardiovascular categories, the key step is structured follow-up with a genetic counsellor, and the relevant specialist (for example, hepatology for hereditary hemochromatosis or Wilson disease, pulmonology and hepatology for alpha-1 antitrypsin deficiency, neurology or neuromuscular clinics for muscular dystrophies, metabolic specialists for Fabry or Pompe disease, or genetics clinics for systemic connective tissue disorders). Management may include targeted medications, enzyme replacement, phlebotomy, specific dietary adjustments (such as iron, copper, or protein modifications), imaging or lab monitoring at defined intervals, and tailored activity recommendations.
Lifestyle is still an important co-factor: avoiding smoking, moderating alcohol, maintaining balanced nutrition, and managing stress reduces additional strain on vulnerable organs. For conditions that carry procedural risk (such as malignant hyperthermia susceptibility), ensuring that genetic information is documented and shared with healthcare providers before surgery or anaesthesia is critical. As with all heritable findings, relatives may choose to pursue testing so they can either implement similar protections or be reassured if they did not inherit the variant.
Additional resources
- ACMG Board of Directors; Miller, D. T., et al. (2023). ACMG SF v3.2 List for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing: A Policy Statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 25(6), 1008–1015.
- Green, R. C., et al. (2013 and updates). ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. Genetics in Medicine, 15(7), 565–574, with subsequent revisions and expansions.
Author
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