how genetic testing can support perimenopause and menopause

Perimenopause and menopause represent profound biological transitions in a woman’s life and whille they are natural phases, the experience for many women is far from uniform. Some women do move through these years with minimal disruption, while others can face debilitating symptoms, hot flushes, mood instability, sleep disturbance, weight gain, cognitive changes, joint pain, and increased cardiometabolic risk.

Traditionally care during this time has focused on symptom management. However, advances in genetic testing now allow practitioners to better understand why certain symptoms arise and how to personalise interventions. Rather than taking a one-size-fits-all approach we can explore the genetic blueprint that influences hormone metabolism, detoxification capacity, inflammatory pathways, and neurotransmitter balance.

Genetic testing does not replace clinical assessment but it can provide a powerful layer of insight.

Understanding the Hormonal Shift

During perimenopause ovarian hormone production becomes erratic before eventually declining. Oestrogen fluctuates dramatically, progesterone declines, and androgens gradually reduce. These shifts impact:

• Brain chemistry

• Bone density

• Cardiovascular health

• Body composition

• Sleep regulation

• Mood stability

Yet not every woman responds the same way. Genetics partly explain why.

1. Oestrogen Metabolism and Detoxification Pathways

Oestrogen must be properly metabolised and cleared from the body. Genetic variations in detoxification and methylation pathways can influence how efficiently this happens. Key genes often assessed include:

• COMT (Catechol-O-Methyltransferase) – Influences how oestrogen metabolites and catecholamines (dopamine, adrenaline) are processed. Variations may impact mood sensitivity, anxiety and response to stress during hormonal shifts.

• CYP1A1, CYP1B1, CYP3A4 – Phase I liver detoxification enzymes involved in oestrogen breakdown. Imbalances in these pathways may influence the ratio of protective vs proliferative oestrogen metabolites.

• MTHFR – Supports methylation, a critical pathway for detoxification and hormone metabolism. Variants may affect nutrient needs (folate, B12, B6) and influence energy, mood and cardiovascular risk.

When these pathways are sluggish or imbalanced women may experience:

• Oestrogen dominance symptoms (breast tenderness, heavy periods, headaches/migraines, irritability and other emotional imbalances)

• Increased PMS, gut issues and pain during perimenopause

• Heightened sensitivity to hormone therapy

• Greater inflammatory load

Understanding genetic tendencies allows for personalised nutritional and herbal strategies that support detoxification and methylation capacity.

2. Progesterone Sensitivity and GABA Support

Progesterone is not only a reproductive hormone, it is deeply calming to the nervous system, enhancing GABA receptor activity, promoting relaxation and sleep.

Genetic variations affecting neurotransmitter metabolism such as GAD1, MAOA, and COMT may influence:

• Anxiety levels

• Stress resilience

• Sleep quality

• Mood reactivity

If a woman has reduced GABA support or slower catecholamine clearance, the drop in progesterone during perimenopause may feel particularly destabilising.

Genetic insights can guide:

• Targeted amino acid support

• Adaptogenic herbs

• Nutrient cofactors

• Stress regulation strategies

Rather than guessing, we can work with biological predispositions.

3. Inflammation and Cardiometabolic Risk

After menopause, the protective cardiovascular effects of oestrogen decline. This can increase risk of:

• Insulin resistance

• Central weight gain

• Dyslipidaemia

• Hypertension

• Cardiovascular disease

Genetic markers in inflammatory and metabolic pathways such as TNF-alpha, IL-6, APOE and genes involved in insulin signalling can help identify women who may be more vulnerable to cardiometabolic changes.

For example:

• Certain APOE variants may influence lipid metabolism and cardiovascular risk.

• Variations in inflammatory genes may predispose to heightened inflammatory responses during hormonal decline.

• Insulin-related polymorphisms may increase susceptibility to weight gain and blood sugar instability.

This information supports proactive strategies around diet, movement, stress, and supplementation to mitigate long-term risk.

4. Bone Health and Vitamin D Receptors

Oestrogen decline accelerates bone resorption. Genetic testing can assess variations in:

• VDR (Vitamin D Receptor)

• Collagen-related genes

• Calcium metabolism pathways

If someone has reduced receptor sensitivity or altered vitamin D signalling they may require more intentional bone-support strategies including:

• Targeted resistance training

• Adequate protein intake

• Personalised vitamin D optimisation (sometimes a methylated Vitamin D, however this is 2 x times stronger and levels will need to be checked more regularly).

• Mineral support

Rather than waiting for bone density to decline, genetic insights allow earlier intervention.

5. Detoxification of Environmental Oestrogens

We live in an environment rich in xenoestrogens, plastics, pesticides, personal care products and endocrine disruptors. During perimenopause, when natural hormone fluctuations are unstable impaired detoxification capacity can compound symptoms.

Genes involved in:

• Glutathione production (GST family)

• Sulfation pathways

• Methylation

may influence how well the body clears environmental toxins.

For women with reduced detoxification capacity, symptoms such as hot flushes, headaches, breast tenderness, and mood swings may be exacerbated.

Genetic testing helps determine whether stronger emphasis should be placed on:

• Liver support

• Antioxidant strategies

• Environmental toxin reduction

• Glutathione optimisation

6. Personalising Hormone Therapy Decisions

Hormone therapy can be life-changing for some women and unsuitable for others. Genetic insights into:

• Oestrogen metabolism pathways

• Clotting factor genes

• Inflammatory risk markers

can inform more nuanced conversations around safety and suitability.

While genetics alone do not dictate clinical decisions they can provide additional context for personalised risk assessment particularly in women with family histories of breast cancer, cardiovascular disease or clotting disorders.

7. Mental Health and Cognitive Resilience

Perimenopause is associated with increased rates of anxiety, depression, and brain fog. Fluctuating oestrogen impacts serotonin, dopamine, and acetylcholine pathways.

Genetic variations affecting:

• Serotonin transport

• Dopamine metabolism

• BDNF (brain-derived neurotrophic factor)

• Methylation

may help explain why some women experience significant cognitive or emotional symptoms during this transition.

Personalised strategies may include:

• Specific nutrient cofactors

• Stress modulation techniques

• Herbal nervous system support

• Lifestyle interventions targeting neuroplasticity

This approach moves beyond symptom suppression and toward nervous system resilience.

The Limitations of Genetic Testing

It is important to understand that genes are not destiny. They are predispositions, not predictions.

Environmental inputs diet, sleep, stress, toxin exposure, movement, trauma history and microbiome health profoundly influence gene expression (epigenetics).

Genetic testing should never be used in isolation. It is most powerful when combined with:

• Comprehensive case history

• Functional pathology testing

• Hormone panels

• Clinical assessment

• Individual symptom patterns

In the hands of a skilled practitioner genetic information becomes part of a broader systems-based approach.

A Personalised Roadmap Through Midlife

Perimenopause and menopause are not merely hormonal events they are metabolic, neurological, inflammatory and structural transitions. Genetic testing offers insight into:

• Hormone metabolism

• Detoxification capacity

• Stress resilience

• Cardiometabolic risk

• Bone health

• Neurotransmitter balance

Rather than reacting to symptoms as they arise women can take a proactive and preventative approach grounded in their unique biological blueprint.

For some, this may mean optimising methylation and liver pathways. For others, it may involve prioritising inflammation reduction, insulin sensitivity or neurotransmitter support.

The goal is not to pathologise menopause but to support it intelligently.

When used appropriately, genetic testing empowers women with knowledge. It provides clarity, reduces guesswork, and allows interventions to be targeted rather than generic.

Midlife can be a time of vitality, clarity, and strength. With the right insight and personalised strategy, menopause becomes not just an ending but a recalibration toward long-term resilience and longevity.

If you would like to chat more to me about your individual health journey and how I can best support you, please feel free to contact me