Genetic testing and genetic counseling for deafness: The future is here

被引:14
作者
Brunger, JW
Matthews, AL
Smith, RHJ
Robin, NH
机构
[1] Univ Iowa, Interdepartmental Genet PhD Program, Iowa City, IA USA
[2] Univ Iowa, Dept Otolaryngol Head & Neck Surg, Iowa City, IA 52242 USA
[3] Case Western Reserve Univ, Univ Hosp Cleveland, Sch Med, Dept Reprod Med, Cleveland, OH 44106 USA
[4] Case Western Reserve Univ, Univ Hosp Cleveland, Sch Med, Dept Pediat, Cleveland, OH 44106 USA
[5] Case Western Reserve Univ, Univ Hosp Cleveland, Sch Med, Dept Otolaryngol Head & Neck Surg, Cleveland, OH 44106 USA
[6] Case Western Reserve Univ, Univ Hosp Cleveland, Sch Med, Dept Genet, Cleveland, OH 44106 USA
关键词
genetic testing for deafness; genetic counseling; genetic testing;
D O I
10.1097/00005537-200104000-00027
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
Today, genetic testing is an option for individuals who have deafness and hard-of-hearing conditions (D/ HOH) and their families for diagnosis and carrier detection. As more and more D/HOH genes are identified, genetic testing mill become commonplace. However, genetic testing is different from other tests that physicians commonly order and therefore should be conducted differently. The objective of this study was to determine the best manner in which to conduct genetic testing for individuals who have D/HOH. Numerous studies have shown that pretest and posttest genetic counseling is beneficial for patients and families undergoing genetic testing for a variety of conditions. The need for counseling was emphasized by our recently completed study in which we found that the majority of individuals whose children had genetic testing for D/HOH had a poor understanding of many genetic issues concerning recurrence risks for D/HOH and the meaning of the test results. The think that genetic counseling should be an integral part of genetic testing for individuals who have D/HOH.
引用
收藏
页码:715 / 718
页数:4
相关论文
共 16 条
[1]   GENETIC-COUNSELING OF THE DEAF - MEDICAL AND CULTURAL CONSIDERATIONS [J].
ARNOS, KS ;
ISRAEL, J ;
CUNNINGHAM, M .
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES-SERIES, 1991, 630 :212-222
[2]   Parental attitudes toward genetic testing for pediatric deafness [J].
Brunger, JW ;
Murray, GS ;
O'Riordan, M ;
Matthews, AL ;
Smith, RJH ;
Robin, NH .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) :1621-1625
[3]  
Chapple Alison, 1995, J Genet Couns, V4, P281, DOI 10.1007/BF01408074
[4]   Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) [J].
Cohn, ES ;
Kelley, PM ;
Fowler, TW ;
Gorga, MP ;
Lefkowitz, DM ;
Kuehn, HJ ;
Schaefer, GB ;
Gobar, LS ;
Hahn, FJ ;
Harris, DJ ;
Kimberling, WJ .
PEDIATRICS, 1999, 103 (03) :546-550
[5]  
Gibson W P, 1991, Med J Aust, V155, P212
[6]  
Gorlin R.J., 1995, Hereditary Hearing Loss and Its Syndromes
[7]  
GRUNDFAST KM, 1992, OTOLARYNG CLIN N AM, V25, P973
[8]  
HIETALA M, 1995, AM J HUM GENET, V56, P1493
[9]  
ISRAEL J, 1995, INTRO DEAFNESS MANUA
[10]   STIGMATIZATION OF CARRIER STATUS - SOCIAL IMPLICATIONS OF HETEROZYGOTE GENETIC SCREENING PROGRAMS [J].
KENEN, RH ;
SCHMIDT, RM .
AMERICAN JOURNAL OF PUBLIC HEALTH, 1978, 68 (11) :1116-1120