Nearly 18 million people around the world die from cardiovascular diseases each year1, making up about a third of all deaths globally2.
Biomarkers - proteins in the human body that can be used to measure the presence or progress of disease - can play a critical role in improving diagnosis and disease management.
High-sensitive cardiac biomarkers can now help determine the risk of heart failure in some patients with type 2 diabetes and aid in preventing strokes in seniors at risk for atrial fibrillation. Some of these biomarkers can also provide healthcare professionals with data to help predict heart attack risk and mortality in non-cardiac surgery patients, serve as an aid in determining the risk of long-term cardiovascular events (death, myocardial infarction, coronary revascularisation, heart failure or ischemic stroke) in asymptomatic individuals or help determine which of the patients scheduled for non-cardiac surgery - or otherwise - are at risk of heart attack.
Knowledge gained from these new biomarker tests can help healthcare providers determine the best course of care for each patient, allowing for personalized surgery and post-operative care.
Women's medical needs are continually underestimated and often go unmet globally. For some women, focus on career, family, and the health and happiness of others — sometimes at the expense of themselves — is a significant contributor to the problem.
Preeclampsia, caused by high blood pressure in the mother, occurs in approximately 1 in 20 pregnancies, and is the second most common cause of maternal death. The disease can be life-threatening for mother and baby, especially if diagnosed late, and can require early - and sometimes risky - delivery. The majority of cases develop in healthy women expecting their first child. Medical conditions such as chronic hypertension, diabetes and renal disease are associated with an increased risk of developing preeclampsia.
Effective preeclampsia diagnostic tests measure two proteins: sFlt-1 (soluble fms-like tyrosine kinase-1) and PlGF (placental growth factor) in maternal blood. Depending on the test result, physicians can reliably exclude or predict the development of the disease short-term, confidently focussing on those women at high risk of preeclampsia.
This innovation in preeclampsia testing using biomarker tests ultimately ensures that those who need a high level of care receive it, while others are able to return home safely.
Progress in disease understanding and genomic and molecular technologies have led to an advancement of predictive genetic testing.
These tests can help determine the future risk of a disease that may (or may not) develop in an otherwise healthy or asymptomatic individual. The aim is that such testing can trigger targeted screening and preventive strategies to help reduce risk if found.
Ultimately, predictive genetic testing can be tremendously valuable and can not only lead to improved patient quality of life, but also to a reduction in healthcare costs. The value of a predictive test depends on several factors including the nature of the disease, the effectiveness of prevention measures or treatment if available, and the cost and efficacy of screening and surveillance measures.3
The risk of developing breast and/or ovarian cancer is considerably increased if a woman has inherited a harmful gene variant known as BRCA1/2. However, being a carrier of BRCA1/2 does not mean that a breast and/or ovarian cancer will certainly develop. Other forms of breast cancer can be driven by genetic mutations such as overexpression of HER2 or other hormone driven mutations.
Today, molecular and genetic technologies provide the opportunity to determine whether a person is at risk of developing cancer. Knowing which mutations are present in tumours can help slow or stop some types of breast and ovarian cancers.
Breast cancer is the most common cancer among women. In 2020, there were 2.3 million women diagnosed worldwide, and approximately 685,000 women die of the disease each year.6 This means that one woman is diagnosed with breast cancer somewhere in the world every 20 seconds and more than three women die of breast cancer every five minutes worldwide.7 Regular mammograms can aid in early detection.
About 13% of women in the general population will develop breast cancer.8
In comparison, up to 72% of women who inherit a harmful BRCA1 variant, and up to 69% of women who inherit a harmful BRCA2 variant, will develop breast cancer9
Ovarian cancer is the most lethal gynaecologic cancer.10 Over 300,000 new cases are diagnosed worldwide annually.11 This means that about every 2 minutes another woman around the world is diagnosed with ovarian cancer.12
About 1.2% of women in the general population will develop ovarian cancer13
In comparison, up to 44% of women who inherit a harmful BRCA1 variant, and 17% of woman that inherit a harmful BRCA2 variant, will develop ovarian cancer14
Predictive screening for harmful BRCA1/2 variants can lead to a better opportunity to detect cancer at an early stage when it is most treatable through enhanced screening. In the best-case scenarios, it can also lead to its prevention through risk-reducing surgery and chemoprevention.
Although BRCA1/2 screening is primarily recommended for people with an elevated risk of having inherited a harmful BRCA1/2 variant, such as those with a known family history of cancer, the patient groups eligible for counselling and testing are expanding.¹⁵
Despite the many benefits of genetic testing, they also contain a component of uncertainty that should be understood and made transparent to the patient. The uncertainty lies in not knowing whether a specific condition will develop or not, but also in when it may appear and how severe it will be. In addition, interventions available for at-risk individuals are often untested in clinical trials and may be based on recommendations or perceived benefit rather than clinical evidence.¹⁶ It’s important for patients to discuss with their healthcare providers or genetic counsellors the implications of testing and ensure it aligns with their wants and needs, and those of their loved ones.
A third of all deaths: Mensah, G. A., et al. (2019). "The Global Burden of Cardiovascular Diseases and Risk Factors." 2020 and Beyond 74(20): 2529-2532
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