Accuracy and ambiguity in counseling patients about genetic risk

被引：25

作者：

Lloyd, FJ

Reyna, VF

Whalen, P

机构：

[1] Mayo Clin Scottsdale, Dept Internal Med, Scottsdale, AZ 85259 USA

[2] Univ Arizona, Dept Surg, Tucson, AZ USA

[3] Univ Arizona, Dept Internal Med, Tucson, AZ USA

来源：

ARCHIVES OF INTERNAL MEDICINE | 2001年 / 161卷 / 20期

关键词：

D O I：

10.1001/archinte.161.20.2411

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A patient from Phoenix, Ariz, recently diagnosed as having diabetes mellitus has a deep tan. He read about hemochromatosis on a Web site and is concerned that he might have the condition, His mother died of congestive heart failure and his paternal uncle had diabetes mellitus and severe arthritis. He wants to obtain testing for an HFE gene mutation. He asks, "If I have the gene, could that be the reason for my diabetes mellitus? What should I do if I am tested and I have the gene? if I do not have the gene, could I still have the disease? Should my children be tested?"

引用

页码：2411 / 2413

页数：3

共 22 条

[1]

Baron J., 1994, THINKING DECIDING

[2] Management of hemochromatosis [J].

Barton, JC ;

McDonnell, SM ;

Adams, PC ;

Brissot, P ;

Powell, LW ;

Edwards, CQ ;

Cook, JD ;

Kowdley, KV .

ANNALS OF INTERNAL MEDICINE, 1998, 129 (11) :932-939

[3] Association of mutations in the hemochromatosis gene with shorter life expectancy [J].

Bathum, L ;

Christiansen, L ;

Nybo, H ;

Ranberg, KA ;

Gaist, D ;

Jeune, B ;

Petersen, NE ;

Vaupel, J ;

Christensen, K .

ARCHIVES OF INTERNAL MEDICINE, 2001, 161 (20) :2441-2444

[4]

Bradley L A, 1996, J Med Screen, V3, P178

[5] Hereditary hemochromatosis - Gene discovery and its implications for population-based screening [J].

Burke, W ;

Thomson, E ;

Khoury, MJ ;

McDonnell, SM ;

Press, N ;

Adams, PC ;

Barton, JC ;

Beutler, E ;

Brittenham, G ;

Buchanan, A ;

Clayton, EW ;

Cogswell, ME ;

Meslin, EM ;

Motulsky, AG ;

Powell, LW ;

Sigal, E ;

Wilfond, BS ;

Collins, FS .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1998, 280 (02) :172-178

[6] Iron overload, public health, and genetics: Evaluating the evidence for hemochromatosis screening [J].

Cogswell, ME ;

McDonnell, SM ;

Khoury, MJ ;

Franks, AL ;

Burke, W ;

Brittenham, G .

ANNALS OF INTERNAL MEDICINE, 1998, 129 (11) :971-979

[7] Prevalence of genetic hemochromatosis in a cohort of Italian patients with diabetes mellitus [J].

Conte, D ;

Manachino, D ;

Colli, A ;

Guala, A ;

Aimo, G ;

Andreoletti, M ;

Corsetti, M ;

Fraquelli, M .

ANNALS OF INTERNAL MEDICINE, 1998, 128 (05) :370-373

[8]

EASTON DF, 1995, AM J HUM GENET, V56, P265

[9]

EDWARDS CQ, 1993, NEW ENGL J MED, V328, P1616

[10] Testing for hereditary cancer risk: Pandora or prometheus? [J].

Frank, TS ;

Skolnick, MH .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (06) :1882-1885

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