Attitudes toward 'Disorders of Sex Development' nomenclature among physicians, genetic counselors, and mental health clinicians.

INTRODUCTION: In 2006, nomenclature referencing atypical sex development (i.e., 'intersex') was updated, and the term disorder of sex development (DSD) was formally introduced. Clinicians, patients, and parents, however, have not universally accepted the new terminology, and some continue to use different nomenclature. This inconsistency in terminology can lead to confusion among clinicians and patients, affect clinician-patient relationships, and interfere with the recommended multidisciplinary model for DSD care. OBJECTIVE: This study sought to (1) evaluate frequency of use and comfort with specific DSD terminology, (2) assess why clinicians are not using specific terms, and (3) determine what terms are being heard within the medical community and by the public in a sample of physicians, genetic counselors, and licensed mental health clinicians. STUDY DESIGN: A Web-based survey assessing the use of DSD terminology was distributed to endocrinologists, urologists, genetic counselors, and mental health clinicians. The survey assessed frequency of use and comfort with specific terms, negative experiences related to specific nomenclature use, and the context in which terms are used (e.g. case conference, literature, patient/parents, and media). A qualitative analysis of open-ended responses was conducted to characterize reasons for avoiding specific terms. RESULTS: The survey was completed by 286 clinicians. There were significant differences between specialties in comfort and frequency of use of specific terms, and significant differences were based on clinician gender, patient volume, length of time in practice, and practice setting. The study results also showed a difference in the nomenclature used within the medical community versus the media. DISCUSSION: Study findings are consistent with previous research exploring medical professionals' use of the new term: disorder of sex development. However, there continues to be inconsistency in the uptake of this new terminology. Words that have been purposed in the literature to replace disorder, such as difference and variation, would be accepted by clinicians, and the word divergent would not. This study expands on the existing literature documenting high uptake of disorder of sex development nomenclature among medical professionals. In addition, this study demonstrates that the most common diagnostic terms used by the medical community are not the same terms being presented to the public by the media. CONCLUSION: Medical professionals have varying preferences for terminology use when describing DSD, which can affect patient care. These results can be used in the future to compare with what patients and advocates prefer to develop a more universally accepted approach to nomenclature.

A rigorous algorithm to detect and clean inaccurate adult height records within EHR systems.

BACKGROUND: Height is a critical variable for many biomedical analyses because it is an important component of Body Mass Index (BMI). Transforming EHR height measures into meaningful research-ready values is challenging and there is limited information available on methods for "cleaning" these data. OBJECTIVES: We sought to develop an algorithm to clean adult height data extracted from EHR using only height values and associated ages. RESULTS: The algorithm we developed is sensitive to normal decreases in adult height associated with aging, is implemented using an open-source software tool and is thus easily modifiable, and is freely available. We checked the performance of our algorithm using data from the Northwestern biobank and a replication sample from the Marshfield Clinic biobank obtained through our participation in the eMERGE consortium. The algorithm identified 1262 erroneous values from a total of 33937 records in the Northwestern sample. Replacing erroneous height values with those identified as correct by the algorithm resulted in meaningful changes in height and BMI records; median change in recorded height after cleaning was 7.6 cm and median change in BMI was 2.9 kg/m(2). Comparison of cleaned EHR height values to observer measured values showed that 94.5% (95% C.I 93.8-% - 95.2%) of cleaned values were within 3.5 cm of observer measured values. CONCLUSIONS: Our freely available height algorithm cleans EHR height data with only height and age inputs. Use of this algorithm will benefit groups trying to perform research with height and BMI data extracted from EHR.

The genetics of ovarian cancer: an assessment of current screening protocols and recommendations for counseling families at risk.

Although the need for effective ovarian cancer screening is apparent, a highly sensitive and specific screening methodology has yet to be elucidated. 42-44 Given that there are more than 43 million women in the United States older than 45 years of age and that the average cost of a pelvic sonogram is $ 275 (and $ 45 for CA125 screening), the screening of this population is estimated to increase health care costs by $ 14 billion per year. 45 The additional cost of BRCA1 screening varies according to the level of diagnostic effort required to establish BRCA1 gene mutations in a particular family and ranges from $ 295 to $ 1,200 per sample. Assuming an average cost of $ 600 per sample, initial screening of these same women would likely increased costs in excess of $ 25 billion. Current knowledge and technology in ovarian cancer screening has not yet proved beneficial for the general population or for women with fewer than two affected family members. For women with two or more affected family members, there is a 3% chance of that patient being a proband in a hereditary cancer syndrome family. 11,46 In this group, who may be at increased risk for developing a malignancy, heightened surveillance is warranted, although there are still no data to confirm that screening even these high-risk women will reduce mortality. Nevertheless, annual bimanual examination, serum CA125, and transvaginal sonography are recommended among this particular subgroup of women at risk, and are likely to be recommended for young, asymptomatic, at-risk women who screen positive for the 185delAG BRCA1 deletion commonly found in persons of Ashkenazi Jewish ancestry. It is only through prospective, randomized trials that reliable data regarding the risk/benefit ratio of ovarian cancer screening among various populations at risk will be determined. The results of the prospective/randomized PLCO trial and the mature data from ongoing prospective, nonrandomized screening trials for women with a family history of cancer may provide this information and are eagerly awaited.