Genetic testing for Alzheimer's risk: Who needs it and how it can help avoid the risks

Benefits of genetic testing: Genetic testing is particularly recommended for people with a family history of Alzheimer’s, especially if those affected were diagnosed before the age of 65 (Image: Canva)

Alzheimer’s disease often sneaks in quietly; an occasional forgotten word, a misplaced item, but it gradually steals away the essence of a person. For families who have watched a loved one fade into confusion, genetic testing can feel like peeking into a mirror that reflects an uncertain future. The thought of inheriting the same fate brings a mix of fear and determination, creating a longing to know yet a reluctance to face what might be.

Knowing your genetic risk is about bracing for a battle that many are desperate to delay or avoid altogether. “When a loved one is diagnosed with early-onset Alzheimer’s, it can be particularly devastating. Unlike typical age-related diagnoses, this form of Alzheimer’s strikes much sooner, often when people are in the prime of their lives. The disease begins to rob them of their memories, cognitive abilities, and independence far earlier than anticipated, making it even more difficult for families to cope,” says Dr Shelly (Mittal) Mahajan, Lab Director & Clinical Lead at Mahajan Imaging Labs.

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“Genetic testing for people with a family history of Alzheimer’s provides critical insight into their specific risk of developing the disease. It’s not just about understanding a general predisposition; it allows people to take proactive steps tailored to Alzheimer’s, such as monitoring for early symptoms, pursuing preventive therapies, or participating in clinical trials. Armed with this knowledge, families can make more informed decisions about care and treatment strategies, enabling them to plan for the cognitive and emotional challenges that Alzheimer’s often brings, rather than facing its progression without direction,” she adds.

Should you consider genetic testing:

Genetic testing is particularly recommended for people with a family history of Alzheimer’s, especially if those affected were diagnosed before the age of 65. It provides valuable insights for families, helping them understand their risks and prepare accordingly. Testing for Alzheimer’s is like uncovering hidden clues in a puzzle that has haunted families for generations. According to Dr Mahajan, a positive result for the APOE-e4 gene only signals a higher risk, but not certainty. “For some, however, the answers come more definitively. Those with mutations in the PSEN1, PSEN2, or APP genes know with near certainty that Alzheimer’s is possible in future.” she adds.

Benefits and limitations of genetic testing:

The insights genetic testing provides are bittersweet. “A positive result may prompt action; you may begin to make positive lifestyle changes; exercise more and eat healthier. Forewarned is forearmed. Preparation for what’s to come is half the battle won.” Dr Mahajan explains. Being informed about this at an early stage also allows families to prepare for discussions about care options, financial planning, and what’s to come.

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Alzheimer’s tends to be more prevalent among women and in rural areas where healthcare infrastructure is limited. “For instance, many rural regions have scarce access to specialised dementia care, making genetic testing a critical step for those with a family history of the disease. Nevertheless, this testing should be carefully weighed, considering the limited care options and support systems available in such areas,” she informs. In some cases, families may find themselves without adequate resources to address the challenges that come with a positive test result.

Lastly, genetic testing is necessary for those who have a family history of Alzheimer’s, but it should be approached with caution and proper guidance. “As the incidence of Alzheimer’s increases, it becomes an important adjunct to preventive health measures,” says Dr Mahajan. Understanding genetic risks can help families prepare for care and make informed decisions about early interventions.

Disclaimer: This article, including health and fitness advice, only provides generic information. Don’t treat it as a substitute for qualified medical opinion. Always consult a specialist for specific health diagnosis.