The completion of the human genome project, and associated advances in genetic research, has allowed the identification of gene mutations that are associated with hundreds of disease outcomes, making it possible to determine whether unaffected individuals are at increased risk of disease.1
Currently, over 1500 genetic or inherited diseases have a clinically based molecular test available.2
Predictive genetic testing can potentially allow for focused prevention and screening programs, as well as personalized treatment.
Among the human disease genes that have been identified are genes involved in disorders that disrupt the structure, function, or developmental patterning of the kidney and urogenital tract.3
Autosomal dominant polycystic kidney disease can result from mutations in the genes PKD1
; 300,000 individuals in the U.S. have or are at risk for developing this condition.4,5
A number of hereditary kidney cancer syndromes have been identified with known gene mutations, including von Hippel-Lindau disease, hereditary papillary renal cancer, Birt-Hogg-Dubé syndrome, and hereditary leiomyomatosis renal cell carcinoma syndrome.6,7
Patients affected by these syndromes generally have a younger age of presentation and multifocal and bilateral renal lesions.8
While hereditary cancer syndromes account for less than 5% of kidney cancers, identification of these patients is critical, as early screening and surgical treatment may improve disease-related morbidity and mortality.6,9
Screening may lead to earlier detection of renal tumors at a stage when treatment may be more effective and a greater number of surgical options can be considered.10,11
However, patients from families with hereditary kidney cancer syndromes and their physicians often face difficult decisions regarding cancer control and quality of life.12
Despite this, little research has examined how patients respond to genetic testing for hereditary kidney cancers or other kidney-related diseases.
Discussions of how genetic information might be used with patients in nephrology contexts can be informed by research conducted with patients affected by hereditary cancer syndromes. This review will focus on patient responses to genetic counseling and testing for hereditary breast and ovarian cancer (HBOC) and hereditary nonpolyposis colorectal cancer (HNPCC), also called Lynch syndrome, as the patient outcomes of predictive genetic testing have been extensively studied for these diseases.13
More specifically, the review will first briefly summarize the implications of HBOC and HNPCC genetic testing for patient care. Then, existing research on patients' cognitive (e.g., risk perception, recall), emotional (e.g., distress, worry, anxiety) and behavioral responses to this genetic information will be discussed. The review will then present evidence concerning how the educational content and delivery of genetic information to patients affect these outcomes. The increasing importance of considering how patients' health literacy, or their health-related skills and knowledge, might affect their responses to genetic information will also be addressed, as over one-third of U.S. adults have limited health literacy.14
The implications of existing research findings for the context of hereditary kidney diseases will be discussed.