A doctor from Lisbon, who studied medicine at Nova Medical School, describes how genetic testing can provide answers when traditional diagnostic methods fail. After completing a year of general internship, the physician found it difficult to commit to a single specialty, seeking something intellectually demanding.
Genetic testing has become increasingly important in diagnosing rare diseases, which affect an estimated 300 million people worldwide. According to the World Health Organization, there are about 6,000 rare diseases, and 80% have a genetic origin.
The doctor notes that in cases where patients have undergone numerous tests without a clear diagnosis, genetic analysis can identify the underlying cause. This approach has been particularly useful in pediatrics and neurology, where many conditions have a genetic basis.
Advances in DNA sequencing technology have made genetic testing more accessible and affordable. The cost of sequencing a human genome has dropped from $100 million in 2001 to around $1,000 today, according to the National Human Genome Research Institute.
