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In this study, subjects were assessed before and after receiving results of direct-to-consumer genomewide profiling to assess disease risk. Receipt of the results appeared to have no substantial effect on psychological health or behavior; however, 44% of subjects did not complete the follow-up assessment. Direct-to-consumer genomewide profiling to assess disease risk provides information about a person's genetic risk of 20 to 40 common polygenic diseases. The tests simultaneously genotype approximately 500,000 variant bases of a person's DNA. Consumers can purchase these tests, currently priced between $400 and $2,000, on the Internet. 1 – 4 Consultation with a health care provider is not a prerequisite. Proponents argue that providing this type of information directly to consumers may result in improved compliance with health-screening practices and more healthful lifestyle choices. Skeptics assert that such testing has the potential to cause harm, including anxiety and increased use of unnecessary . . .

Background Current breast cancer care is based on high-level evidence from randomized, controlled trials. Despite these data, there continues to be variability of breast cancer care, including overutilization of some tests and operations. To reduce overutilization, the American Board of Internal Medicine Choosing Wisely ® Campaign recommends that professional organizations provide patients and providers with a list of care practices that may not be necessary. Shared decision making regarding these services is encouraged. Methods The Patient Safety and Quality Committee of the American Society of Breast Surgeons (ASBrS) solicited candidate measures for the Choosing Wisely ® Campaign. The resulting list of “appropriateness” measures of care was ranked by a modified Delphi appropriateness methodology. The highest-ranked measures were submitted to and later approved by the ASBrS Board of Directors. They are listed below. Results (1) Don’t routinely order breast magnetic resonance imaging in new breast cancer patients. (2) Don’t routinely excise all the lymph nodes beneath the arm in patients having lumpectomy for breast cancer. (3) Don’t routinely order specialized tumor gene testing in all new breast cancer patients. (4) Don’t routinely reoperate on patients with invasive cancer if the cancer is close to the edge of the excised lumpectomy tissue. (5) Don’t routinely perform a double mastectomy in patients who have a single breast with cancer. Conclusions The ASBrS list for the Choosing Wisely ® campaign is easily accessible to breast cancer patients online. These measures provide surgeons and their patients with a starting point for shared decision making regarding potentially unnecessary testing and operations.

Direct-to-consumer personal genomic testing (DTC-PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data pre- and post-PGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of ≥$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used in-person GC had it been available. Compared to non-seekers, GC seekers were younger (mean age of 38 vs 46 years), more frequently had children <18 (26% vs 16%), and were more likely to report previous GC (37% vs 7%) and genetic testing (30% vs 15%). In logistic regression analysis, seeking GC was associated with previous GC use (OR = 6.5, CI = 3.1–13.8), feeling motivated to pursue DTC-PGT for health reasons (OR = 4.3, CI = 1.8–10.1), fair or poor self-reported health (OR = 3.1, CI = 1.1–8.3), and self-reported uncertainty about the results (OR = 1.8, CI = 1.1–2.7). These findings can help GC providers anticipate who might seek GC services and plan for clinical discussions of DTC-PGT results.

Context.—Tests that are performed outside of the ordering institution, send-out tests, represent an area of risk to patients because of complexity associated with sending tests out. Risks related to send-out tests include increased number of handoffs, ordering the wrong or unnecessary test, specimen delays, data entry errors, preventable delays in reporting and acknowledging results, and excess financial liability. Many of the most expensive and most misunderstood tests are send-out genetic tests. Objective.—To design and develop an active utilization management program to reduce the risk to patients and improve value of genetic send-out tests. Design.—Send-out test requests that met defined criteria were reviewed by a rotating team of doctoral-level consultants and a genetic counselor in a pediatric tertiary care center. Results.—Two hundred fifty-one cases were reviewed during an 8-month period. After review, nearly one-quarter of genetic test requests were modified in the downward direction, saving a total of 2% of the entire send-out bill and 19% of the test requests under management. Ultimately, these savings were passed on to patients. Conclusions.—Implementing an active utilization strategy for expensive send-out tests can be achieved with minimal technical resources and results in improved value of testing to patients.

Based on nationwide data from the French national cancer institute (INCa), we analyzed the evolution of cancer genetics consultations and testing over time, and the uptake of targeted tests in relatives of families with BRCA1/2 or MMR genes mutation. Genetic testing and consultations for familial high-risk individuals are exclusively funded and monitored by the INCa in France. All nationwide cancer genetics centers reported annually standardized parameters of activity from 2003 to 2011. The analysis included a total of 240,134 consultations and 134,652 genetic tests enabling to identify 32,494 mutation carriers. Referral for hereditary breast and ovarian cancer (HBOC) or colorectal cancer predisposition syndromes represented 59 % (141,639) and 23.2 % (55,698) consultations, respectively. From 2003 to 2011, we found a dramatic and steady increase of tests performed for BRCA1/2 (from 2,095 to 7,393 tests/year, P  < 0.0001) but not for MMR genes (from 1,144 to 1,635/year, P  = NS). The overall percentage of deleterious mutations identified in the probands tested was 13.8 and 20.9 % in HBOC and Lynch syndromes, respectively. Pooled analysis for BRCA1/2 and Lynch syndrome tests showed an inverse relationship between the percentage of mutation detected and the absolute number of tests performed over the time (overall Cochran–Armitage test for trend: P  < 0.001). In families with BRCA1/2 or MMR identified mutations, there was an average number of 2.94 and 3.28 relatives performing targeted tests, respectively. This nationwide study shows a lack of referral and genetic testing in Lynch as compared to HBOC syndromes. Only a third of relatives of a proband with a predisposing mutation performed a targeted test. Enhanced information about benefit of genetic testing should be given to clinicians and patients for Lynch syndrome and relatives of a proband carrying an identified predisposing mutation.

Disclaimer: This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline.

Personalized prescribing is gaining momentum, but is there enough evidence for it to become standard clinical practice?

Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer’s ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically. Roles of the genetic counselor may include assisting clients with the interpretation of and adaptation to these results, as well as advising the companies involved in this sector on the ethical, legal, and social issues associated with testing. This paper reviews the history, fundamentals, intended uses, and unintended consequences of ancestry genetic testing. It also discusses the types of information in an ancestry testing result, situations that might involve a clinical genetic counselor, and the benefits, limitations, and functions that ancestry genetic testing can play in a clinical genetics setting.

Background Direct-to-consumer (DTC) genomic testing has generated controversy, however the actual impact of testing on consumer behaviour has been understudied, particularly for pharmacogenomic (PGx) testing. Methods We recruited a sample of adults who purchased a DTC genomic test and had previously received their genomic test results for complex disease risk. All participants additionally underwent PGx testing. At follow-up, to assess the impact of PGx testing on consumer behaviour, healthcare utilisation and psychological status were compared between approximately a third of participants who had received their PGx results and the remaining two-thirds of participants who were still awaiting results. The PGx test included genetic testing for drug effectiveness or risk of side effects for 12 medications. Results At follow-up, there were 481 PGx test recipients and 844 non-recipients still awaiting results. PGx test recipients had more physician visits (p=0.04) and were more likely to share their results with their physician (p=0.001). Both groups showed a decrease in anxiety symptoms from baseline to follow-up, with a trend for PGx recipients to show less of a decrease compared with non-recipients (p=0.10). PGx recipients were more likely to report that their physician ordered additional tests (p=0.01) based on their genomic test. There were no group differences in follow-up test-related distress (p=0.67). Conclusions DTC PGx risk profiling among a selected sample of individuals was associated with increased physician utilisation and did not result in any adverse changes in psychological health or follow-up test-related distress.

The use of Whole-Genome Sequencing (WGS) in clinical settings has brought up a number of controversial scientific and ethical issues. The application of WGS is of particular relevance in neurology, as many conditions are difficult to diagnose. We conducted a worldwide, web-based survey to explore neurologists' views on the benefits of, and concerns regarding, the clinical use of WGS, as well as the resources necessary to implement it. Almost half of the 204 neurologists in the study treated mostly adult patients (48%), while the rest mainly children (37.3%), or both (14.7%). Epilepsy (73%) and headaches (57.8%) were the predominant conditions treated. Factor analysis brought out two profiles: neurologists who would offer WGS to their patients, and those who would not, or were not sure in which circumstances it should be offered. Neurologists considering the use of WGS as bringing more benefits than drawbacks currently used targeted genetic testing (P<0.05) or treated mainly children (P<0.05). WGS' benefits were directed towards the patients, while its risks were of a financial and legal nature. Furthermore, there was a correlation between respondents' current use of genetic tests and an anticipation of increased use in the future (P<0.001). However, over half of respondents did not feel sufficiently informed to use WGS in their practice (53.5%). Our results highlight gaps in education, organization, and funding to support the use of WGS in neurology, and draw attention to the need for resources that could strongly contribute to more straightforward diagnoses and possibly better treatment of neurological conditions.