Medicare beneficiary barriers to genetic counselor services: Implications for patient policy, decision-making, and care.

If passed, the "Access to Genetic Counselor Services Act" will authorize genetic counselors to provide services under Medicare part B. We assert that Medicare policy should be updated through the enactment of this legislation to provide Medicare beneficiaries with direct access to genetic counselor services. In this article, we discuss the background, history, and some recent research relevant to patient access to genetic counselors to provide context and perspective regarding the rationale, justification, and potential results of the proposed legislation. We outline the potential impact of Medicare policy reform, including the effect on access to genetic counselors in high-demand areas or underserved communities. Although the proposed legislation pertains only to Medicare, we argue that private systems will also be impacted by passage as this may lead to an increase in hiring and retention of genetic counselors by health systems, thereby improving access to genetic counselors across the US.

Complex relationship between TAS2 receptor variations, bitterness perception, and alcohol consumption observed in a population of wine consumers.

Our ability to taste bitterness affects our food choices and alcohol consumption. Alleles in the taste 2 receptor member TAS2R38 have been linked to the ability to perceive bitterness in bitter-tasting compounds and in many foods, and people with these bitterness sensitivity alleles have been shown to be less likely to consume alcohol, presumably because of alcohol's bitter taste. In a survey of 519 participants, almost all of whom regularly consumed alcohol, we observed that genetic variants in TAS2R38 were significantly associated with both increased alcohol consumption and the ability to perceive bitterness in several foods and a bitter chemical. In total, we assayed 39 variants in 25 genes that have been implicated in the genetics of taste perception, and no other variants predicted alcohol consumption. Perception of bitterness in broccoli and a preference for black coffee were also positively associated with alcohol consumption. As the consumption of alcohol is a social activity there may be incentive to appreciate its bitter aspects, and increased perception of bitterness could therefore be associated with consumption of some bitter beverages. As this study's respondents were predominantly frequent consumers of alcohol, these findings may be consistent with previous studies that have seen that increased experience in the consumption of wine is associated with an increased perception of PROP bitterness. Further work elucidating the complex relationship between the genetics of bitter perception and alcohol consumption will better describe these connections.

Impact of maternal prenatal and parental postnatal stress on 1-year-old child development: results from the OTIS antidepressants in pregnancy study.

Perinatal psychological stress has been associated with unfavorable maternal and neonatal outcomes. We aimed to assess the impact of perinatal stress on infant development at 1 year of age. We recruited pregnant women calling North American Teratogen Information Services or attending outpatient clinics at CHU Sainte Justine (Montreal) between 2008 and 2010 and their spouses. To be part of our study, women had to be (1) >18 years of age, (2) <15 weeks of gestational age at recruitment, (3) living within 250-km radius of Montreal, and (4) taking antidepressants or non-teratogenic drugs. Stress was assessed using the telephone-administered four-item perceived stress scale during pregnancy in mothers and at 2 months postpartum in both parents. Child development at 1 year of age was evaluated with the Bayley III scales. Socio-demographic and potential confounders were collected through telephone interviews. Multivariable linear regression models were built to assess the association between perinatal parental stress and child development. Overall, 71 couples and their infants were included. When adjusted for potential confounders, maternal prenatal stress was positively associated with motor development (adjusted ß = 1.85, CI 95 % (0.01, 3.70)). Postpartum maternal and paternal stresses were negatively associated with motor and socio-emotional development, respectively (adjusted ß = -1.54, CI 95 % (-3.07, -0.01) and adjusted ß = -1.67, CI 95 % (-3.25, -0.10), respectively). Maternal and paternal postnatal stress seems to be harmful for the motor and socio-emotional development in 1-year-old children. No association was demonstrated between parental stress and cognitive, language, and adaptive behavioral development. However, prenatal maternal stress appears to improve motor skills.

The ASQ and R-PDQ telephone-administered validation within the OTIS antidepressant in pregnancy study.

This study aimed to assess the telephone administration of the 12-month Ages and Stages Questionnaire (ASQ) and the 9- to 24-month Revised Prescreening Denver Questionnaire (R-PDQ) using the Antidepressants in Pregnancy Study cohort from the Organization of Teratology Information Specialists. The ASQ includes five domains (communication, gross motor, fine motor, problem-solving, and personal-social). The R-PDQ tests four areas of development (gross motor, fine motor, personal-social, and language). Both instruments were self and telephone-administered to mothers at 12 months postpartum. Concordance between the telephone and self-administration was assessed with intraclass correlation coefficients (ICCs) with 95% CIs. For the ASQ, concordance between test scores was substantial for the communication scale (ICC = 0.76, 95% CI [0.63, 0.85]), almost perfect for the gross motor scale (ICC = 0.83, 95% CI [0.73, 0.89]), and moderate for the fine motor, problem-solving, and personal-social scales (ICC = 0.43, 95% CI [0.19, 0.61]; ICC = 0.42, 95% CI [0.19, 0.61]; and ICC = 0.50, 95% CI [0.29, 0.67], respectively). Regarding the R-PDQ, concordance between test scores was as follows: gross motor (ICC = 0.90, 95% CI [0.83, 0.94]), language (ICC = 0.57, 95% CI [0.36, 0.73]), and personal-social scales (ICC = 0.26, 95% CI [0.00, 0.49]). For the fine motor scale, the correlation between both modes was 100%. The 12-month ASQ telephone administration could be an alternative for children developmental screening. Except the personal-social scale, the 9- to 24-month R-PDQ could be telephone-administered for prescreening development.

Genetic counseling for personal genomic testing: optimizing client uptake of post-test telephonic counseling services.

The field of genetic counseling faces a broad challenge: many potential clients may not be aware of the value and benefit of genetic counseling services, and therefore may not utilize those services. Navigenics is a personal genomic testing company that provides telephonic genetic counseling services for multifactorial diseases and pharmacogenetics. When first offered in 2008, utilization of the Navigenics genetic counseling service was less than expected. To explore the basis for under-utilization and potential mechanisms for increasing uptake, Navigenics initiated a quality improvement study, in which three different methods of engaging clients in the uptake of genetic counseling services were assessed over the course of 1 year. Outcomes showed significant differences in uptake rates between methodologies (7.5%, 24.6%, and 60.1%), yielding an 8-fold increase in service utilization when post-test telephonic outreach to all clients was performed. Further, utilization spanned all risk levels based on client results, evidence that not only clients with high-risk results were motivated to engage in the genetic counseling service. This research indicates that implementing strategies to educate clients about genetic counseling can positively impact client engagement and utilization of available services.

Personal genomic testing as part of the complete breast cancer risk assessment: a case report.

Patient access and utilization of personal genomic testing is becoming increasingly common. We present a case of a patient's personal genomic screening results leading to early detection of infiltrating breast ductal cell carcinoma via MRI scan. This case exemplifies the successful integration of personal genomic testing into the primary care setting, with the guidance and support of genetic counseling services. We discuss the scientific basis of the patient's genome scan results and risk assessment, and how this informed her decision-making and subsequent screening. We also expound upon the role of personal genomic testing as compared to other screening tests in the complete breast cancer risk assessment.

Reliability and validity of the 4-item perceived stress scale among pregnant women: results from the OTIS antidepressants study.

We aimed to estimate the reliability of the 4-item Perceived Stress Scale (PSS) and its validity in predicting maternal depression and quality of life (QoL). Data regarding stress, depression and QoL were collected during pregnancy among a sub-sample from the Organization of Teratology Information Specialists Antidepressants in Pregnancy Cohort. The 4-item PSS demonstrated acceptable internal consistency (Cronbach's alpha coefficient = .79), alternate forms stability reliability with the 10-item PSS (Pearson correlation coefficient r = .63; p < .001), convergent validity with the Edinburgh Postnatal Depression Scale (r = .67; p < .001), and concurrent validity with the mental health component of the Short-Form-12 (r = -.62; p < .001) as a measure of QoL. The 4-item PSS is a valid and useful tool for assessing maternal stress during pregnancy.

Prenatal exposure to mycophenolate mofetil: an updated estimate.

Mycophenolate mofetil (MMF) has become a major therapeutic option in the management of patients undergoing transplantation, as well as in the treatment of autoimmune conditions. Case reports have suggested that MMF use during pregnancy is associated with a specific pattern of congenital malformations. Because many pregnancies are unplanned, it is imperative to assess the teratogenic risk of MMF. Using the Organization of Teratology Information Specialists network, we prospectively identified and followed pregnant women exposed to MMF during pregnancy to update this teratogenic potential. Ten cases were identified and all received the drug during embryogenesis at the recommended doses (500 to 1500 mg daily). There were four miscarriages and one elective abortion due to fear of teratogenesis. None of the five live births had malformations. It is possible that, similar to other human teratogens discovered first by case reports, the absolute risk from MMF may be smaller than originally calculated based on case reports. Because the major malformations phenotypic of MMF may be visualized in utero (e.g., microtia, cleft palate, congenital diaphragmatic hernia, and cardiac malformation), diagnostic imaging should be performed.

Smoking in pregnancy and lactation: a review of risks and cessation strategies.

BACKGROUND: Despite documented evidence of harm to fetus and infant, a substantial number of women continue to smoke during pregnancy and lactation. OBJECTIVE: To examine the literature regarding smoking during pregnancy and breastfeeding to ascertain adverse effects as well as the efficacy of interventions to enable women to stop smoking in the perinatal period. STUDY DESIGN: A comprehensive literature search was undertaken to identify all published studies reporting on smoking in pregnancy and lactation. MEDLINE, EMBASE, PUBMED, and Web of Science databases were searched for studies published in English from 1966 to 2008 that reported on smoking in pregnancy and breastfeeding, with information on adverse effects and on all forms of smoking cessation, including behavioral interventions, nicotine replacement therapy, and pharmacotherapy such as antidepressants. RESULTS: There is evidence that smoking in pregnancy and lactation may cause many adverse affects in the perinatal period, childhood, and up to adulthood. These adverse effects include infertility, ectopic pregnancy, spontaneous abortion, placenta insufficiency, low birth weight, fetal growth restriction, preterm delivery, orofacial clefts, SIDS, craniosynostosis, clubfoot, childhood respiratory disease, attention deficit disorder, and some childhood cancers. A number of strategies have been developed to assist pregnant women in quitting smoking, including both behavioral interventions and pharmacological therapies, such as nicotine replacement and antidepressant therapy. CONCLUSIONS: Behavioral interventions report only modest success rates. Nicotine replacement therapy and antidepressants appear to be safe to use in pregnancy, but do not achieve a substantially higher success rate for quitting.

Medical students' attitudes toward genetic testing of minors.

The purpose of this study was to examine attitudes of medical students at a single university toward genetic testing in minors, defining attitudes as willingness to offer testing, and reasons for offering or not offering testing. A survey was distributed to all University of Arizona medical students (n = 428) during the 2003-2004 academic year. The survey consisted of three clinical vignettes concerning genetic testing for Huntington's disease (HD), BRCA1 breast cancer predisposition mutation, and cystic fibrosis (CF) carrier status. For each vignette, students responded to whether they would provide testing for a 7-year-old, a 17-year-old, and their reasons for each age and condition. One hundred thirty-five students (31.5%) responded to the survey. Medical students were significantly more likely to test a 7-year-old for CF carrier status (57%), than they were for a BRCA1 mutation (47%), and an HD mutation (40%). Students were significantly more likely to test a 17-year-old than a 7-year-old in each clinical scenario. Students who had completed a genetics course in medical school were significantly less likely to test a 7-year-old for a BRCA1 mutation than those who had not completed a formal course. Medical students' willingness to perform genetic testing in a minor is influenced by the type of condition, the age of the minor being tested, and the amount of genetics education received in medical school.