Genomics in the Scientific Literature [19] - Genetic Testing

Genomics in the Scientific Literature
Topics in the Scientific Literature

Genetic Testing

1. BRCA1/2 test results impact risk management attitudes, intentions, and uptake
O'Neill SC, et al.
Breast Cancer Res Treat 2010 Apr

Breast Cancer Res Treat. 2010 Apr 10. [Epub ahead of print]

BRCA1/2 test results impact risk management attitudes, intentions, and uptake.
O'Neill SC, Valdimarsdottir HB, Demarco TA, Peshkin BN, Graves KD, Brown K, Hurley KE, Isaacs C, Hecker S, Schwartz MD.

Cancer Control Program and Fisher Center for Familial Cancer Research, Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, 3300 Whitehaven Street, NW, Suite 4100, Washington, DC, 20007, USA, sco4@georgetown.edu.

Abstract
Women who receive positive or uninformative BRCA1/2 test results face a number of decisions about how to manage their cancer risk. The purpose of this study was to prospectively examine the effect of receiving a positive versus uninformative BRCA1/2 genetic test result on the perceived pros and cons of risk-reducing mastectomy (RRM) and risk-reducing oophorectomy (RRO) and breast cancer screening. We further examined how perceived pros and cons of surgery predict intention for and uptake of surgery. 308 women (146 positive, 162 uninformative) were included in RRM and breast cancer screening analyses. 276 women were included in RRO analyses. Participants completed questionnaires at pre-disclosure baseline and 1-, 6-, and 12-months post-disclosure. We used linear multiple regression to assess whether test result contributed to change in pros and cons and logistic regression to predict intentions and surgery uptake. Receipt of a positive BRCA1/2 test result predicted stronger pros for RRM and RRO (P < 0.001), but not perceived cons of RRM and RRO. Pros of surgery predicted RRM and RRO intentions in carriers and RRO intentions in uninformatives. Cons predicted RRM intentions in carriers. Pros and cons predicted carriers' RRO uptake in the year after testing (P < 0.001). Receipt of BRCA1/2 mutation test results impacts how carriers see the positive aspects of RRO and RRM and their surgical intentions. Both the positive and negative aspects predict uptake of surgery.

PMID: 20383578 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20383578?dopt=Abstract


2. Diagnosis of adult hereditary pulmonary disease and the role of genetic testing
Shah P, et al.
Chest 2010 Apr;137(4):976-82

Chest. 2010 Apr;137(4):976-82.

Diagnosis of adult hereditary pulmonary disease and the role of genetic testing.
Shah P, Nathanson K, Holmes AM, Hadjiliadis D.

Hospital of the University of Pennsylvania, 3400 Spruce St, 100 Centrex, Philadelphia, PA 19104, USA. Parina.Shah@uphs.upenn.edu

Comment in:

Chest. 2010 Apr;137(4):748-50.

Abstract
Genetic testing is becoming a common component of medical practice and is used to determine definitive diagnoses for several adult pulmonary diseases. It is important for pulmonologists to know when to use genetic tests for diagnosis and medical management. This article describes diagnosis of rare hereditary pulmonary disease in adults and the role of genetic testing. A summary on coding and reimbursement is included.

PMID: 20371532 [PubMed - in process]
http://www.ncbi.nlm.nih.gov/pubmed/20371532?dopt=Abstract



3. Use of a genomic test (MammaPrint) in daily clinical practice to assist in risk stratification of young breast cancer patients
Kunz G
Arch Gynecol Obstet 2010 Apr

Arch Gynecol Obstet. 2010 Apr 13. [Epub ahead of print]

Use of a genomic test (MammaPrint) in daily clinical practice to assist in risk stratification of young breast cancer patients.
Kunz G.

Department of Obstetrics and Gynaecology, St.-Johannes-Hospital Dortmund, Dortmund, Germany, georg.kunz@joho-dortmund.de.

Abstract
PURPOSE: Breast cancer as a heterogeneous disease demands reliable tools in order to identify those patients who most likely will benefit from receiving adjuvant treatment, such as chemotherapy. MATERIALS AND METHODS: The MammaPrint test was established on the basis of a 70-gene expression profile. In this prospective study, the adaptation of MammaPrint into clinical work-up procedures was investigated in 56 patients with an average age of 45 years treated at a general hospital in Germany between 2004 and 2008. To assess the accuracy of MammaPrint in this younger patient group, a meta-analysis was performed on a subgroup from previously described retrospective studies (n = 689). RESULTS: 44 patients had MammaPrint results and were eligible for the analysis. The results revealed a low risk result in 29 patients and a high risk result in 15 patients. Using St. Gallen 2007 guidelines for risk assessment, the numbers were 4 for low risk and 6 for high risk, respectively, while 34 patients were classified as intermediate risk. In the group of women with intermediate risk, MammaPrint assigned 23 patients to low risk and 11 to the high risk group. In the meta-analysis of retrospective studies, 10 year overall survival for the low and high MammaPrint groups was 90.2 and 65.2%, respectively. CONCLUSIONS: Using gene expression analysis as additional tool, patients with an intermediate clinical risk can be accurately separated into low and high risk groups. The gene expression analysis provides more accurate information on recurrence risk compared to conventional clinicopathological criteria and thus may provide additional guidance in daily clinical practice in future. Results of further prospectively designed studies like the MINDACT trial will confirm the retrospective analysis and will determine how both low and high risk patients can best be treated.

PMID: 20383789 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20383789?dopt=Abstract


4. What Facilitates or Impedes Family Communication Following Genetic Testing for Cancer Risk? A Systematic Review and Meta-Synthesis of Primary Qualitative Research
Chivers Seymour K, et al.
J Genet Couns 2010 Apr

J Genet Couns. 2010 Apr 9. [Epub ahead of print]

What Facilitates or Impedes Family Communication Following Genetic Testing for Cancer Risk? A Systematic Review and Meta-Synthesis of Primary Qualitative Research.
Chivers Seymour K, Addington-Hall J, Lucassen AM, Foster CL.

School of Health Sciences, University of Southampton, Nightingale Building (67), Highfield, Southampton, UK, SO171BJ, kc02@soton.ac.uk.

Abstract
To systematically review and meta-synthesise primary qualitative research findings regarding family communication following genetic testing of cancer risk, in order to inform development of effective interventions. Systematic searches of CINAHL, Embase, Medline, British Nursing Index and PsycINFO databases were undertaken and relevant studies identified using strict criteria. The selected primary qualitative studies were appraised for quality and relevance by three independent researchers and then synthesized using a "Framework" approach. Fourteen (4.3%) studies met the inclusion criteria. The following factors influenced family communication following genetic testing for late-onset hereditary cancer: the informant's feelings about informing relatives about genetic testing; the perceived relevance of the information to other family members and their anticipated reactions; the "closeness" of relationships within the family; family rules and patterns (e.g., who is best placed to share information with whom); finding the right time and level of disclosure; and the supportive role of heath care professionals. The themes identified in this review could provide practitioners with a useful framework for discussing family communication with those undergoing genetic testing. This framework focuses on helping health care professionals to facilitate family communication. The next step will be the development of an intervention to directly support people in talking to their relatives.

PMID: 20379768 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20379768?dopt=Abstract