Genetic counseling for nonsyndromic pancreatitis.
An appreciation for the background of disease, not to mention the medical management of individuals, may be significantly affected by testing for mutations and genetic variants associated with pancreatitis. Pretest and posttest counseling are essential for patients and families to benefit fully from genetic testing for a susceptibility to develop pancreatitis. The clinician, often working directly with a qualified genetic counselor, must ensure that patients and families appreciate the benefits and limitations of genetic tests, that results are interpreted accurately, and that patients understand implications of information for both their medical care and personal decisions. This article focuses on the approach to genetic counseling for pancreatitis and implications of recent advances.
Fink
Erin N
EN
Department of Medicine, University of Pittsburgh, 1218 Scaife Hall, 3550 Terrace Street, Pittsburgh, PA 15213, USA.
Kant
Jeffrey A
JA
Whitcomb
David C
DC
D002352:Carrier Proteins / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004247:DNA / Q000235:genetics; D015870:Gene Expression; D005817:Genetic Counseling / Q000379:methods*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D010195:Pancreatitis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D011379:Prognosis; D012307:Risk Factors; D014359:Trypsin Inhibitor, Kazal Pancreatic
C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D004247:DNA