从遗传学角度来看：优化生殖系检测结果为阴性个体的筛查.pdf

1、A Genetic Perspective:Optimizing Screening for Individuals with Negative Germline TestingLindsey Byrne,MS,CGCLindsey.byrneosumc.eduObjectives Describe the role of Genetic Counselors in multidisciplinary hereditary renal cancer clinics.Highlight the discrepancies in screening guidelines for individua

2、ls with familial renal cancer risk(negative germline testing).Genetic Counseling Referrals and Outcomes 253%increase in referrals!Referredn=377Appointment Completedn=279Testedn=240P/LPn=35Carriern=1VUSn=66Negativen=144Assessing Genetic and Urologic Providers on Renal Screening Recommendations for In

3、dividuals with a Family History of Renal Cancer This study aimed to assess current practices regarding screening recommendations for patients with familial RCC risk,evaluate the perceived need for formalized screening guidelines,and identify optimal clinician involvement for developing such guidelin

4、es.A survey of 35 questions was sent out using listservs,professional connections,and snowball methods.Participants were eligible if they currently cared for individuals with RCC and can read English.Genetic CounselorMedical OncologistAPPRN Medical OncologyGeneticistEndocrinologistUrologist010203040

5、50Job TitleJob TitleYears in the Field0-531(44%)6-1013(19%)11-1515(21%)16+11(16%)Formal Genetics TrainingN=62Genetic Counseling Masters degree46(74%)Cancer Genetics Training/Certification13(21%)Fellowship2(3%)No answer and blank9(15%)Results:Participant CharacteristicsGender IdentityFemale62(89%)Mal

6、e7(10%)Prefer not to say1(1%)Race/EthnicityWhite59(84%)Asian9(13%)Middle Eastern or Northern African2(3%)Other Race/Ethnicity1(1%)Prefer not to answer1(1%)Non-Hispanic/Latino68(97%)Hispanic/Latino2(3%)Age Range20-2917(24%)30-3924(34%)40-4911(16%)50-5915(21%)60-693(4%)Results:Participant Characterist