Sarah’s story of predictive health
At the age of 35, Sarah learns about her family history of breast cancer. Several of her paternal aunts have died from breast cancer. Sarah is concerned about her own risk and wants to do everything she can to protect her health. She seeks genetic counselling, and requests to have her WGS data analysed for mutations in high-risk breast cancer predisposition genes. The results show a disease-causing mutation in the BRCA1 gene. This result places Sarah in the high-risk category for developing breast and ovarian cancer.
With this information, Sarah and her doctor are able to create a personalised plan for her health. She decides to undergo regular screenings and surveillance, including mammograms and MRI's, aiming to detect cancer early when it's most treatable.
The following year upon screening, Sarah is found to have early breast cancer in her right breast. Due to her BRCA1 genetic status, Sarah is at an increased risk of additional cancers in either breast, as such she is offered bilateral mastectomy with breast reconstruction as a treatment option. Sarah is able to make an informed decision based on her genetic status and elects to have this surgical procedure that not only removes her breast cancer but also significantly reduces her future breast cancer risk.
Genomic profiling of her breast cancer cells is undertaken following breast surgery. The results show mutations in the PI3K/AKT/mTOR pathway, informing the choice of targeted treatment if needed for Sarah in the future, for example, if Sarah develops a relapse of breast cancer elsewhere.
Pharmacogenomics variants are also analysed from her WGS data, to predict her response and metabolism of more than 200 therapeutic drugs. The results are used to guide the dosage of her adjuvant chemotherapy as well as tamoxifen; and to tailor selection and optimal dosing of supportive therapy including antiemetics and postoperative pain management.
In addition to Sarah’s personal health implications, the identification of the BRCA1 mutation has implications to her wider family who can now access the option of predictive genetic testing to inform their personal risk, health management, and reproductive planning.
When Sarah turns 40, she makes an informed decision to undergo risk-reducing bilateral salpingo-oophorectomy to reduce her ovarian cancer risk associated with the BRCA1 mutation.
Sarah develops Major Depression following the surgery and is commenced, by her psychiatrist at point of care, on an anti-depressant that is compatible with her pharmacogenomics profile. Sarah shows good response to the first antidepressant prescribed and is able to achieve remission in the first 4 months of depressive symptoms.
At the age of 55, Sarah develops chest pain and shortness of breath. She undergoes a variety of tests which are not conclusive in reaching a diagnosis. Her doctor resorts to genetics and arranges to have her WGS data analysed for an underlying genetic cause.
The results of the genomic analysis reveal that Sarah has a genetic mutation that puts her at an increased risk of developing heart disease and life-threatening heart rhythm. With this knowledge, her doctor is able to tailor her treatment to target her specific risk factors and prevent the onset of heart disease. Sarah is put on a preventive medication to keep her heart rhythm under control and given lifestyle recommendations to reduce her risk of sudden death.
Genomic testing provides Sarah with a more complete understanding of her health and leads to timely and more accurate diagnosis and treatment of her symptoms. It also allows her to take proactive steps to prevent the onset of other diseases.
The WHO defines prevention as ‘approaches and activities aimed at reducing the likelihood that a disease or disorder will affect an individual, interrupting or slowing the progress of the disorder or reducing disability’.
Primary prevention focuses on reducing risk factors to prevent a disease or disorder before it arises. This includes identifying and addressing biomedical risk factors such as genetic predispositions before onset of symptoms.
Secondary prevention focuses on the early detection and best practice management of a disorder that is informed by genomics, to reduce deterioration and long-term effects. This includes early diagnosis through the use of genomics, allowing targeted management tailored to each person’s DNA, as well as screening for other complications and co-morbidities associated with the implicated genetic risk factor.
Tertiary prevention focuses on reducing harms in people affected by a genetic disorder and minimising their functional impairment. This includes management of co-morbidities, complications and associated disabilities, informed by genomics.
Quaternary prevention focuses on reducing harms caused by medical interventions for a disease or disorder. Such harm can be minimised by using genomics to guide treatment or circumvent invasive investigations or procedures.
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