How do non-geneticist physicians deal with genetic tests? A qualitative analysis

被引:9
作者
Pasquier, Laurent [1 ,2 ]
Minguet, Guy [3 ]
Moisdon-Chataigner, Sylvie [4 ]
Jarno, Pascal [5 ]
Denizeau, Philippe [6 ]
Volf, Ginette [7 ]
Odent, Sylvie [6 ]
Moutel, Gregoire [2 ,8 ]
机构
[1] CHU Rennes, Ctr Reference Deficiences Intellectuelles Causes, Serv Genet Clin, 16 Blvd Bulgarie, F-35203 Rennes, France
[2] Normandie Univ, Anticipe, INSERM, U1086, 3 Ave Gen Harris, F-14076 Caen, France
[3] Inst Mines Telecom Atlantique, Dept Sci Sociales & Gest, 4 Rue Alfred Kastler, F-44307 Nantes 3, France
[4] Univ Rennes 1, Fac Droit, Lab IODE, 9 Rue Jean Mace,CS 54203, Rennes, France
[5] CHU Rennes, Serv Sante Publ, F-35203 Rennes, France
[6] Univ Rennes, Inst Genet & Dev Rennes, Ctr Reference Anomalies Dev CLAD Ouest, CNRS,IGDR,UMR 6290,Serv Genet Clin,CHU Rennes, 16 Blvd Bulgarie, F-35203 Rennes, France
[7] Alliance Malad Rares, Delegat Reg Bretagne, Rennes, France
[8] CHU Caen, Espace Reg Reflex Eth Med Legale & Droit Sante, Ave Cote Nacre, F-14033 Caen, France
关键词
FAMILY-HISTORY; PERCEPTIONS; GUIDELINES; DISORDERS;
D O I
10.1038/s41431-021-00884-z
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Genetic testing is accepted to be a common practice in many medical specialties. These genetic tests raise issues such as respect for basic rights, how to handle results and uncertainty and how to balance concerns for medical confidentiality with the rights of third parties. Physicians need help to deal with the rapid development of genomic medicine as most of them have received no specific training on the medical, ethical, and social issues involved. Analyzing how these professionals integrate genetic testing into the patient-provider relationship is essential to paving the way for a better use of genomics by all. We conducted a qualitative study comprising a series of focus groups with 21 neurologists and endocrinologists about their genetic testing practices in the western part of France. The interviews were transcribed and analyzed for major themes. We identified an automated care management procedure of genetic testing that affects patient autonomy. The simple fact of having a written consent cannot justify a genetic test given the stakes associated with the results. We also suggest orienting practices toward a systemic approach using a multidisciplinary team or network to provide resources for dealing with uncertainties in interpreting results or situations that require additional technical or clinical skills and, if necessary, to allow for joint consultations with both a geneticist and a non-geneticist medical specialist.
引用
收藏
页码:320 / 331
页数:12
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