Sickle cell trait carriers are healthy; however, they are at risk to have children with sickle cell disease (SCD), a serious hematologic disorder. Unsuccessful population screening for sickle cell trait (SCT) has resulted in a large population of African American individuals entering childbearing age with no knowledge of their risk. Recent experience with newborn screening follow-up of hemoglobinopathies has shown that interest in genetic screening for SCT is low. This study aims to understand and increase the level of acceptance of genetic screening among the African American population through a program of education and assessment of the current state of SCD cultural health beliefs. This is important for Public Health because SCD is the most common genetic disorder affecting the African American community and education to promote screening must be sensitive to the cultural beliefs of the community. Utilizing a method of anonymous surveys given to female African American patients within a busy prenatal clinic the effect of education of SCD on the acceptance of genetic screening for SCT has been assessed. The Health Belief Model was used to assess the current state of health beliefs regarding SCD and trait testing through anonymous surveys. This study revealed that a brief educational intervention regarding SCD in a prenatal setting is effective in significantly increasing knowledge of SCD and acceptance of screening for SCT (p-value < 0.001). African American women of childbearing age have a high perception of severity of SCD, a low perception of susceptibility to SCD, a high perception of benefit to SCT testing and a low perception of barriers to testing for SCT. Education within a prenatal setting can be used as a model to increase acceptance of screening for SCT. A high level of knowledge of SCD is associated with a high level of acceptance; however, the Health Belief Model revealed that currently the majority of the participants do not feel that they are personally at risk to have a child with SCD, regardless of SCD knowledge. Future education of SCD must take into account these beliefs in order to effectively motivate interest in SCT testing.

Prenatally detected chromosomal mosaicism complicates genetic counseling as there is variability in phenotypic outcome and available information pertaining to phenotypic consequences is limited. The objective of this study was to identify the phenotypic effects of mosaicism that was diagnosed prenatally. A total of 4,599 CVS specimens and 15,688 amniocentesis specimens were collected between 1991 and 2005 and clinical information was reviewed for all mosaic cases. Of those procedures, 76 CVS specimens (1.65%) and 66 amniocentesis specimens (0.42%) indicated a mosaic result. However, seven of the mosaic amniocentesis results were observed after a previous mosaic CVS result. When these specimens were removed from the calculation, the incidence of mosaic amniocenteses was 0.38%. Of the cases that had follow-up cytogenetic testing, CVS cases were found to have a true mosaicism rate of 23.6% while amniocentesis cases had a rate of 60.7%. The rates of prenatally detected mosaicism and true fetal mosaicism for Magee-Womens Hospital are comparable to the rates reported in literature. This study found mosaic results involving trisomy for chromosomes 2, 7, 8, 9, 10, 12, 13, 15, 16, 18, 20, 21, 22, X, and Y. In addition, there was monosomy for chromosomes 21, 22, and X, tetraploidy, structural aberrations, and supernumerary marker chromosomes. However, no cases of UPD were identified. From this information, associations were made between the phenotypic outcomes observed in this study and those reported from previous studies. Based on the information provided from this study, it is apparent that phenotype can vary, even when the same abnormality is involved and that more information is needed regarding long term consequences of prenatally diagnosed mosaicism. The results of this study are important to public health because it provides additional data regarding the phenotypic results after prenatal diagnosis of mosaicism for various chromosome abnormalities and increases the understanding of the role of mosaicism in prenatal diagnosis, enabling more effective patient counseling.

Type 1 diabetes mellitus is a multifactorial autoimmune disease caused by a combination of genetic and environmental factors. Further knowledge and understanding about the genes which play a role in type 1 diabetes has a clear public health significance in that it will aid in the prediction, treatment and a possible cure. Type 1 diabetes is a chronic disease with a lengthy preclinical course, which eventually results in pancreatic beta cell destruction and inability of the body to produce insulin hormone. Type 1 diabetic patients generally require exogenous insulin to survive. Several genetic loci have been proposed to be linked to type 1 diabetes; however, the HLA and VNTR regions are currently believed to account for the majority of genetic risk, contributing to about 42% and 10% of an individuals risk to develop type 1 diabetes, respectively. This study focuses on the candidate gene Islet Cell Autoantigen 1 (ICA1), which codes for the protein ICA69. This protein product is expressed in the islets of Langerhans, the neuroendocrine system and in the thymic medulla; this last location is an area of the body known to play a major role in immunologic tolerance. Preliminary studies in the NOD and B6 mouse models suggest that a SNP within the promoter region of Ica1 affects transcription and may account for altered expression in the thymus. Our current study aimed to determine whether single nucleotide polymorphisms within intronic regions of the human ICA1 gene differed between a diabetic case population and non-diabetic controls. It was hypothesized that SNPs within the ICA1 gene differ between cases and controls and play a role in the onset of type 1 diabetes. Polymerase Chain Reaction (PCR) was applied for DNA amplification and the pyrosequencing technique was used to genotype all samples. At SNP location rs2058519 there was a clear genotypic difference between the cases and controls (p= .0003). These results suggest that genetic variation at this specific SNP location in the ICA1 may be associated with type 1 diabetes susceptibility. The ultimate goal of this study is to determine whether our candidate gene ICA1 appears to play a role in the pathogenesis of type 1 diabetes.

Genetic counselors are health professionals specially trained in medical genetics and counseling. Twenty-nine masters level genetic counseling training programs exist in North America and collectively admit approximately 195 students each year. Continuation of the education and training of these specialized health professionals has significant public health importance. The existing admissions process has recently proven to be labor intensive and time consuming, with difficulty encountered while trying to fill programs. As a result of these obstacles, an alternative admissions procedure was explored. The match algorithm used by U.S. medical residency programs was used as a basis for this study. Under this system, software utilizes rank order lists submitted by programs and applicants to place the two parties into the most mutually beneficial program-applicant pairings. Twenty-seven genetic counseling programs and 166 current first year students participated in a survey that gathered program and student preferences. In addition, interest, opinions, and suggestions concerning the existing and proposed admissions system were ascertained. Due to incomplete student participation in the study, the U.S. residency match algorithm was modified. Compared with the existing admissions process, the match resulted in more programs (4 of 27) with unfilled slots, and approximately equal student satisfaction in terms of which program they were matched to. The accuracy of the modified match results is limited due to the match modifications and insufficient number of study participants. The majority of students (66%) indicated they would not be willing to participate in a match and 75% indicated they were satisfied or very satisfied with the existing admissions process. Program directors were largely satisfied with the existing process (81%). Benefits of a match may include: time efficiency, reduction in anxiety, and ease of process. Both students and program directors perceived barriers to the implementation of a match, including the problem of financial aid distribution under a match, the operating costs, and loss of decision making ability. Both groups suggested improvements for the existing admissions process. Suggestions included introduction of a universal application and an earlier notification date for admissions decisions. This study serves as a collection of data to be used for further investigation into the use of a matching algorithm in genetic counseling admissions.

The Center for Minority Health (CMH), located in the University of Pittsburghs Graduate School of Public Health, was established to promote health and prevent disease. Its mission is to eliminate racial and ethnic health disparities in Pittsburgh by the year 2010. The Healthy Black Family Project (HBFP) was one project designed to meet this goal by reducing the prevalence of diabetes and hypertension in Pittsburgh. The Family Health History Initiative is one part of HBFP; its purpose is to educate participants about the importance of family health history as a risk factor for disease. By providing personalized risk assessments based on family history, genetic counseling students at the University of Pittsburgh hope to encourage individuals to adopt healthy lifestyle behaviors in an effort to reduce their risk for multifactorial conditions like cancer, heart disease, hypertension, and diabetes. This project was designed to assess the ability of a family health history session to encourage participants to increase their physical activity. Using the transtheoretical model, information about the physical activity habits of participants before and after a family health history session was collected. This data was analyzed to determine whether or not individuals increased their physical activity after a family health history session; data collected from individuals who had completed a Health Risk Assessment but not a family health history session was compared. The data show that individuals who complete a family health history session are more likely to increase their physical activity than individuals who complete a Health Risk Assessment. Most individuals who completed a family health history session, however, did not progress along the stages of change, defined as precontemplation, contemplation, preparation, action, and maintenance. Individuals who earned less than $20,000 a year, who perceived themselves to be obese, who intended to increase their physical activity, who had a moderate risk for any disease, and who perceived themselves to be at high risk or reported already having a disease were more likely to improve along the stages of change than other individuals. This study provides public health significance by defining the effectiveness of a family health history as an intervention.

The Huntington Disease Clinic at the University of Pittsburgh Medical Center is dedicated to diagnosing, treating, and supporting patients that are at risk for Huntington disease (HD). This is a progressive disease that causes a multisystem breakdown of the body. Many of these patients grew up knowing the disease and waiting to begin exhibiting symptoms themselves. With the discovery of the gene that causes HD came a predictive gene test that can be performed on symptomatic people or people who are at risk. The test does not come without psychological impacts, though, which is why the clinic was created. The clinic includes a neurologist, a genetic counselor, and at least one social worker. It was formally created in 1999. Before 1999, an informal clinic with rotating doctors saw Huntington patients. It was the desire of the clinic to examine how the services they provide have changed since 1999 and whether they are meeting the patients needs. This study will allow us to assess the response of the public to the clinic and make changes that will improve the service, thus lending public health relevance to the experience. A mailed satisfaction survey created from the questions of the staff was sent to all of the patients who had been through the HD clinic. Of the two hundred and two surveys sent, forty-one were returned and analyzed according to the logistics of the clinic, the medical staff, and the testing experience. It was found that active patients and patients in the support group were more likely than inactive patients and patients not attending the support group to respond to medical staffing questions. It was also found that age of the participants played a role in the satisfaction with the clinic logistics, while length between the time of testing and the time of filling out the survey played a role in the satisfaction with the physician in the clinic. A final finding of the study is that the genetic counselor and the social workers are generally well liked. Overall, the clinic is meeting the needs of the patient population they are serving.

Minor physical anomalies (MPA) are defined as unusual morphological features found in less than 4% of the general population, but with no serious medical or cosmetic significance to the bearer. An increase in MPA has been associated with irritability in newborns, hyperactivity, and adult-onset schizophrenia and bipolar disorders. In our study, we wish to determine whether minor physical anomalies serve as a predictor for behavioral variation and whether certain regions of the body are more likely to manifest anomalies related to behavioral problems. To determine the combination of MPA most predictive of behavioral variation, we performed a meta-analysis of existing literature examining the relationship between schizophrenia and MPA. Additionally, we sought to determine the heritability of this trait in a twin design. Twin pairs were recruited from Twinsburg, Ohio during the 2005 annual Twins Day Festival and from the Pittsburgh Registry of Infant Multiplets (PRIM). The only inclusion criterion was that twin pairs were between 5 and 12 years of age. The Stroop Task and the Continuous Performance test were administered to assess attention and impulsiveness in the twin pairs. A 15-20 minute assessment for minor physical anomalies using an expanded version of the standardized Waldrop Physical Anomaly Scale was performed by two investigators. We determined, via meta-analysis, the subset of MPA that is most predictive of schizophrenia. Using a twin design, we estimated the intraclass correlations and heritability of these MPA in a set of 50 twin pairs. We determined that MPA may not be useful as predictors for behavioral variations but may be more useful in specific psychotic populations, specifically schizophrenia. This study has implications for public health because research into the biological etiology of MPA could identify risk factors that would enable early detection and prevention of later psychosis.

Hereditary pancreatitis is characterized by episodes of pancreatic inflammation accompanied by unrelenting abdominal pain, usually beginning in childhood. Therefore, this emerging population of individuals is affected with a chronic pain condition affecting global quality of life. A multidisciplinary approach, including psychosocial and behavioral factors, is necessary to elicit responses to and treat chronic pain. Improving overall quality of life is an important outcome of interventions for chronic conditions. Health-related quality of life reflects an individual's physical and mental well-being. This study documents the pain levels and quality of life of individuals with both hereditary and sporadic pancreatitis. Data from 73 individuals with hereditary pancreatitis and 271 individuals with sporadic pancreatitis who participated in the Hereditary Pancreatitis Study and the North American Pancreatitis Study 2 were examined for this study. The questionnaires addressed each subject's report of quality of life, severity and duration of pain, alcohol use, tobacco use, and diagnosis of diabetes. Patient responses were analyzed using a battery of comparative analyses. The SF-122 health survey was analyzed using an algorithm for standardizing and weighting the physical and mental health scores. Pain and quality of life measures were compared to each other, as well as to several commonly measured environmental influences on health using correlation analysis, regression analysis, and the Mann-Whitney U test. As hypothesized, individuals with familial pancreatitis reported worse pain and poorer overall quality of life than individuals with sporadic pancreatitis. Factors influencing the measure of pain include the duration, severity, frequency, and character. Other findings include correlations between (a) physical quality of life and gender, smoking, and alcohol, (b) pain and age, and (c) pain frequency and tobacco and alcohol use. This study provides information that can potentially assist health care professionals who work with individuals with pancreatitis and chronic pain, and who are assessing the necessity of psychosocial intervention or support services.

Acute pain from vaso-occlusion that cannot be reduced at home is the most common reason for Emergency Department (ED) visits and hospital admission for patients with Sickle Cell Disease (SCD). Administration of opioids is often necessary to alleviate pain symptoms. Despite health-care providers knowledge of pain episodes that occur in individuals with SCD, poor pain management persists in the health care setting. This may be due to preconceptions and misinformation regarding administration of opioids and general lack of SCD knowledge. The availability of personal computers and access to the World Wide Web in the home and office settings allows for web-based learning as an efficient and convienient method to reach many health-care providers. Clinicians can access concisely presented information that covers the most essential information, and that provides instantaneous access to relevant literature. Consequently, we developed a web-based, interactive educational module that describes a typical presentation and course of a pediatric patient with SCD presenting to the ED with pain. The purpose of this project is to assess whether this type of educational intervention is useful, accessible and effective for enhancing health care providers knowledge. To measure degree of knowledge gained, we compared answer selections from a 5-question pre-test and post-test. An evaluation was administered containing two demographic questions and nine opinion questions. Opinion questions asked subjects to what degree they felt a particular objective was achieved. Answers choices were based on a Likert-type scale ranging from very low to very high. A variety of health care providers have participated in this project, ranging from social workers to hematology attending physicians. Subjects reported feeling a web-based application was useful and that the overall quality of our module was very good. Under-treatment of pain in all patient populations is a public health problem. In the SCD patient population pain episodes recur over a lifetime and significantly impact all areas of life. Web-based educational modules similar to the one we have created can augment knowledge and refine health care providers practice of pain management in SCD to improve efficacy, thereby increasing quality of life for these patients.

Children born prematurely are at risk for perinatal brain injuries (PBI). Both prematurity and PBI confer risk for neurodevelopmental disabilities. We investigated the linguistic and behavioral characteristics of children born prematurely, with and without perinatal brain injuries, at ages 10-15. In total, 16 children born preterm participated. Eight were born at 30-37 weeks and eight were born earlier than 30 weeks gestation. Six children reportedly had PBI and ten children reported no PBI. Clinical tools were used to measure global language skills, vocabulary, reading and comprehension and grammar. Parent questionnaires were used to assess behavior. Children born after 29 weeks of age scored significantly higher on tests for receptive vocabulary, language memory, reading and passage comprehension than children born before 30 weeks gestation (p is less than or equal to 0.05). Scores reported for anxiety and depression symptoms were higher for the children born before 30 weeks than scores reported for the children born after 29 weeks. The mean scores of children with no PBI were significantly higher for expressive language and passage compehension than the mean scores of children with PBI. There were no significant behavior differences between the children with and without PBI. There were no differences between the children with and without PBI. There were no differences measured between groups, by PBI or gestational age, for tests of grammar and sentence comprehension, accuracy and reaction time. The results suggest that children with PBI may have difficulty with reading comprehension and expressive language and that gestational age and not PBI specifically, may have a greater effect on linguistics and behavior. Identifying long-term consequences of prematurity is relevant to public health because it will help a growing population of children at risk for neurodeveloopmental disabilities benefit from early intervention.