Include inquiries about consanguineous relationships. Deceased relatives Patients tend to focus on living relatives unless you remind them otherwise. Often, those who have died as a result of a disorder of genetic origin may be the most informative to your analysis. For instance, developmental delays or undiagnosed learning disabilities can give clues to certain genetic syndromes. Follow up all innocent-sounding comments with specific questions.
Many genetic disorders can manifest themselves differently in different individuals.
Age of onset, degree of severity and class of symptoms can vary among individuals. A good example is that of fragile X mental retardation syndrome. Poor recall Let s say your patient recalls Uncle Joe having died of stomach cancer. Further investigation of medical records and death certificates might reveal Uncle Joe s primary site of cancer as colorectal - a prime candidate for further genetic inquiry. Sometimes such investigations have revealed that Uncle Joe was no blood relation to the consultand, or that he never died but was ostracized from the family.