Min-Kyung Jung

Physician Knowledge of Ethnicity Specific Differences in BRCA Genetic Testing

To the Editor: Breast Cancer is the most common cancer and the second leading cause of cancer death in American women (1). Approximately 5–15% of all breast cancers are hereditary and the most commonly described cause is germline BRCA mutations. The lifetime risk of breast cancer in females with a BRCA mutation is up to 90%, while the lifetime risk of ovarian cancer is up to 40% (2,3). Ethnicity can be associated with determining the overall likelihood for an individual to harbor a specific hereditary mutation as well as specific mutation type. When ordering BRCA testing, physicians must choose between different types of genetic testing technologies that can each detect specific types of mutations. It was recently determined that Latino/Hispanic individuals who carry a BRCA mutation are more likely to carry a distinct BRCA1 rearrangement than individuals of other ethnicities. BRCA gene sequencing will not detect large rearrangements and deletions, including the mutation seen in Latinos/Hispanics. Detection of this mutation requires a specific rearrangement test (4,5). The rearrangement test does not hold equal importance for all ethnic groups. For example, the contribution of BRCA rearrangements in the Jewish population is significantly lower (6). Once ordered predominantly by specialists in academic settings, genetic testing is now frequently ordered by primary care physicians (PCPs) (7). A minority of PCPs appear to recognize the current risk assessment guidelines for identifying a BRCA mutation. Specifically, PCPs may not be familiar with recommendations by the National Comprehensive Cancer Network (NCCN), which is considered the gold standard in cancer risk assessment, screening and treatment (7,8). In addition, they may not be aware of more recent details about BRCA testing that are not yet reflected in NCCN guidelines. A survey of 55 questions was administered to 116 PCPs evaluating their knowledge and practice patterns regarding hereditary breast and ovarian cancer (HBOC). Survey questions were designed by using NCCN guidelines for HBOC (8). The survey addressed demographic variables, frequency of genetics assessment in clinical practice and knowledge about HBOC. Physicians were posed with a variety of knowledge statements relating to BRCA testing and were asked to indicate whether the items were true, false, or whether they did not know the answer. The mean age of all physicians in our study was 47.2 (SD 13.6), 52.6% (n = 61) were female and 83.6% (n = 97) were white. For questions pertaining to ethnicity specific issues in BRCA genetic testing, physicians were most aware that an Ashkenazi Jewish woman with a diagnosis of ovarian cancer is at high risk for carrying a BRCA mutation (n = 85, 73.3%). More than half of the physicians were aware that all ethnicities are not equally at risk for carrying a BRCA mutation (n = 70, 60.3%), 45.7% (n = 53) of physicians correctly answered that the genetic tests ordered for a given hereditary condition would not be the same regardless of the patient’s ethnicity, 29.6% (n = 34) knew that the BRCA mutations found in Ashkenazi Jewish individuals are generally one of three specific mutations, and only 12.2% (n = 14) correctly identified that Latino/Hispanic individuals have a higher chance of having a deletion in the BRCA gene that cannot be detected by gene sequencing. With regard to knowledge about molecular genetics, most physicians correctly identified that there are different types of mutations that can exist in the same gene (n = 102, 89.5%). Over half of the physicians knew that that genetic sequencing will not detect all types of genetic mutations (n = 77, 68.1%). About a third of the physicians knew that standard BRCA sequencing Address correspondence and reprint requests to: Bhuma Krishnamachari, Division of Research, Department of Medicine, NYIT College of Osteopathic Medicine, PO Box 8000, Old Westbury, NY 11568, USA, or e-mail: bkrishna@nyit.edu

Utilizing wearable technology to increase physical activity in future physicians: A randomized trial

This study examined the use of activity trackers alone or combined with weekly communication through email to improve activity and body composition over one academic year in medical students. This randomized clinical trial conducted at the New York Institute of Technology from July 7, 2016 through June 4, 2017 enrolled 120 medical students. The first group (Fitbit-Plus) wore activity trackers and received weekly emails offering fitness challenges and lifestyle modification challenges. The second group (Fitbit-Only) received only activity trackers and did not receive weekly emails. The third group (Control) was asked not to purchase an activity tracker of any kind throughout the study. All groups had a body composition analysis prior to the start of the academic year and at the end of the first academic year. Outcome measures included step count and body composition (body fat percentage and lean body mass). The results showed the overall mean daily steps were greater in the Fitbit-Plus group than the Fitbit-Only group for the academic year (7429 ± 2833 vs. 6483 ± 2359) with only months April and May showing a significant difference between the groups (p = 0.011; p = 0.044). Body fat percentage decreased in the Fitbit-Plus overweight women (2.1 ± 1.6%) lean body mass increased in the Fitbit-Plus group in overweight men (2.4 ± 4.6 lbs.). A subsequent finding of this study showed improved body composition in a small sub-group of over-weight students. Weekly behavioral challenges combined with an activity tracker increased step count in medical students compared to an activity tracker alone. Clinicaltrials.gov Identifier: NCT02778009.

The Reliability of the Sensory Organization Test in Parkinson's Disease to Identify Fall Risk

The Sensory Organization Test (SOT) is an objective computer-based test used to quantitatively assess an individual’s ability to use visual, proprioceptive, and vestibular cues to maintain postural stability. The objective of this study was to determine the reliability of the SOT to differentiate fallers as compared to non-fallers in individuals with PD. This was a non-randomized single site controlled trial in a clinical setting. 39 subjects with PD (age 70.8 ± 9.9) were identified as fallers or non-fallers based on a history of two or more falls in the past six months. Balance was evaluated using the SOT, Mini-BESTest and MDS-UPDRS-III. Composite scores from the SOT, Mini-BESTest and MDS-UPDRS III were analyzed. There was a statistically significant difference in the mean Mini-BESTest score of 17.8 ± 5.6 for fallers compared to 24.8 ± 2.3 for nonfallers (p<0.05). There was a statistically significant difference in the mean SOT score of 61.8 ± 14.4 compared to 71.8 ± 9.4 for nonfallers (p<0.05). The mean MDS-UPDRS-III score for fallers was 33.6 ±11.6 and 27.8± 9.2 for nonfallers, this was not significant. An ROC curve was constructed to determine the optimal cut-off score for determining a high-risk faller with PD. Our data suggests the SOT is a reliable test to identify PD subjects at risk for falling with a cut-off score of < 67.