Cancer Genetic Counseling-Current Practice and Future Challenges

被引：21

作者：

Schienda, Jaclyn ^{[1
]}

Stopfer, Jill ^{[1
]}

机构：

[1] Dana Farber Canc Inst, Div Canc Genet & Prevent, Boston, MA 02215 USA

来源：

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE | 2020年 / 10卷 / 06期

关键词：

BREAST-CANCER; HEREDITARY BREAST; AMERICAN SOCIETY; MEDICAL GENETICS; PEDIATRIC CANCER; POLICY STATEMENT; FAMILY-HISTORY; PRACTICE GUIDELINE; INFORMED-CONSENT; BRCA2; MUTATIONS;

D O I：

10.1101/cshperspect.a036541

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：

Cancer genetic counseling practice is rapidly evolving, with services being provided in increasingly novel ways. Pretest counseling for cancer patients may be abbreviated from traditional models to cover the elements of informed consent in the broadest of strokes. Genetic testing may be ordered by a cancer genetics professional, oncology provider, or primary care provider. Increasingly, direct-to-consumer testing options are available and utilized by consumers anxious to take control of their genetic health. Finally, genetic information is being used to inform oncology care, from surgical decision-making to selection of chemotherapeutic agent. This review provides an overview of the current and evolving practice of cancer genetic counseling as well as opportunities and challenges for a wide variety of indications in both the adult and pediatric setting.

引用

页数：23

共 136 条

[1] Analysis of the Prevalence of Microsatellite Instability in Prostate Cancer and Response to Immune Checkpoint Blockade [J].

Abida, Wassim ;

Cheng, Michael L. ;

Armenia, Joshua ;

Middha, Sumit ;

Autio, Karen A. ;

Vargas, Hebert Alberto ;

Rathkopf, Dana ;

Morris, Michael J. ;

Danila, Daniel C. ;

Slovin, Susan F. ;

Carbone, Emily ;

Barnett, Ethan S. ;

Hullings, Melanie ;

Hechtman, Jaclyn F. ;

Zehir, Ahmet ;

Shia, Jinru ;

Jonsson, Philip ;

Stadler, Zsofia K. ;

Srinivasan, Preethi ;

Laudone, Vincent P. ;

Reuter, Victor ;

Wolchok, Jedd D. ;

Socci, Nicholas D. ;

Taylor, Barry S. ;

Berger, Michael F. ;

Kantoff, Philip W. ;

Sawyers, Charles L. ;

Schultz, Nikolaus ;

Solit, David B. ;

Gopalan, Anuradha ;

Scher, Howard I. .

JAMA ONCOLOGY, 2019, 5 (04) :471-478

[2] Parent Decision-Making Around the Genetic Testing of Children for Germline TP53 Mutations [J].

Alderfer, Melissa A. ;

Zelley, Kristin ;

Lindell, Robert B. ;

Novokmet, Ana ;

Mai, Phuong L. ;

Garber, Judy E. ;

Nathan, Deepika ;

Scollon, Sarah ;

Chun, Nicolette M. ;

Patenaude, Andrea F. ;

Ford, James M. ;

Plon, Sharon E. ;

Schiffman, Joshua D. ;

Diller, Lisa R. ;

Savage, Sharon A. ;

Malkin, David ;

Ford, Carol A. ;

Nichols, Kim E. .

CANCER, 2015, 121 (02) :286-293

[3] Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease [J].

Almqvist, EW ;

Brinkman, RR ;

Wiggins, S ;

Hayden, MR .

CLINICAL GENETICS, 2003, 64 (04) :300-309

[4] Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (vol 98, pg 1067, 2016) [J].

Amendola, Laura M. ;

Jarvik, Gail P. ;

Leo, Michael C. ;

McLaughlin, Heather M. ;

Akkari, Yassmine ;

Amaral, Michelle D. ;

Berg, Jonathan S. ;

Biswas, Sawona ;

Bowling, Kevin M. ;

Conlin, Laura K. ;

Cooper, Greg M. ;

Dorschner, Michael O. ;

Dulik, Matthew C. ;

Ghazani, Arezou A. ;

Ghosh, Rajarshi ;

Green, Robert C. ;

Hart, Ragan ;

Horton, Carrie ;

Johnston, Jennifer J. ;

Lebo, Matthew S. ;

Milosavljevic, Aleksandar ;

Ou, Jeffrey ;

Pak, Christine M. ;

Patel, Ronak Y. ;

Punj, Sumit ;

Richards, Carolyn Sue ;

Salama, Joseph ;

Strande, Natasha T. ;

Yang, Yaping ;

Plon, Sharon E. ;

Biesecker, Leslie G. ;

Rehm, Heidi L. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (01) :247-247

[5]

[Anonymous], 2017, Obstet Gynecol, V130, pe110, DOI 10.1097/AOG.0000000000002296

[6] A Systematic Review of Randomized Controlled Trials to Assess Outcomes of Genetic Counseling [J].

Athens, Barbara A. ;

Caldwell, Samantha L. ;

Umstead, Kendall L. ;

Connors, Philip D. ;

Brenna, Ethan ;

Biesecker, Barbara B. .

JOURNAL OF GENETIC COUNSELING, 2017, 26 (05) :902-933

[7] Critical questions in ovarian cancer research and treatment: Report of an American Association for Cancer Research Special Conference [J].

Bast, Robert C., Jr. ;

Matulonis, Ursula A. ;

Sood, Anil K. ;

Ahmed, Ahmed A. ;

Amobi, Adaobi E. ;

Balkwill, Frances R. ;

Wielgos-Bonvallet, Monicka ;

Bowtell, David D. L. ;

Brenton, James D. ;

Brugge, Joan S. ;

Coleman, Robert L. ;

Draetta, Giulio F. ;

Doberstein, Kai ;

Drapkin, Ronny I. ;

Eckert, Mark A. ;

Edwards, Robert P. ;

Elias, Kevin M. ;

Ennis, Darren ;

Futreal, Andrew ;

Gershenson, David M. ;

Greenberg, Roger A. ;

Huntsman, David G. ;

Ji, Jennifer Xiao Ye ;

Kohn, Elise C. ;

Iavarone, Claudia ;

Lengyel, Ernst R. ;

Levine, Douglas A. ;

Lord, Christopher J. ;

Lu, Zhen ;

Mills, Gordon B. ;

Modugno, Francesmary ;

Nelson, Brad H. ;

Odunsi, Kunle ;

Pilsworth, Jessica A. ;

Rottapel, Robert K. ;

Powell, Daniel J., Jr. ;

Shen, Li ;

Shih, Ie-Ming ;

Spriggs, David R. ;

Walton, Josephine ;

Zhang, Kaiyang ;

Zhang, Rugang ;

Zou, Lee .

CANCER, 2019, 125 (12) :1963-1972

[8] Providing patient education: impact on quantity and quality of family health history collection [J].

Beadles, Chris A. ;

Wu, R. Ryanne ;

Himmel, Tiffany ;

Buchanan, Adam H. ;

Powell, Karen P. ;

Hauser, Elizabeth ;

Henrich, Vincent C. ;

Ginsburg, Geoffrey S. ;

Orlando, Lori A. .

FAMILIAL CANCER, 2014, 13 (02) :325-332

[9] A universal genetic testing initiative for patients with high-grade, non-mucinous epithelial ovarian cancer and the implications for cancer treatment [J].

Bednar, Erica M. ;

Oakley, Holly D. ;

Sun, Charlotte C. ;

Burke, Catherine C. ;

Munsell, Mark F. ;

Westin, Shannon N. ;

Lu, Karen H. .

GYNECOLOGIC ONCOLOGY, 2017, 146 (02) :399-404

[10] Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? [J].

Beitsch, Peter D. ;

Whitworth, Pat W. ;

Hughes, Kevin ;

Patel, Rakesh ;

Rosen, Barry ;

Compagnoni, Gia ;

Baron, Paul ;

Simmons, Rache ;

Smith, Linda Ann ;

Grady, Ian ;

Kinney, Michael ;

Coomer, Cynara ;

Barbosa, Karen ;

Holmes, Dennis R. ;

Brown, Eric ;

Gold, Linsey ;

Clark, Patricia ;

Riley, Lee ;

Lyons, Samuel ;

Ruiz, Antonio ;

Kahn, Sadia ;

MacDonald, Heather ;

Curcio, Lisa ;

Hardwick, Mary Kay ;

Yang, Shan ;

Esplin, Ed D. ;

Nussbaum, Robert L. .

JOURNAL OF CLINICAL ONCOLOGY, 2019, 37 (06) :453-+

← 1 2 3 4 5 6 7 8 9 10 →