Prevalence of the ß(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India.

Sickle cell disease is an inherited disorder of the blood, and characterized by vasoocclusive crises (VOC), risks for pneumococcal infections and organ toxicities, is associated with morbidity and premature mortality. India, with a population of 1.2 billion individuals, is estimated to be home to over 50.0% of the world's patients with sickle cell disease. The ß(S) gene [ß6(A3)Glu→Val; HBB: c.20A>T] has the highest prevalence in three socio-economically disadvantaged ethnic categories: the Scheduled Castes (SC), the Scheduled Tribes (ST), and Other Backward Class (OBC) groups in India. The tradition of endogamy practiced by the ethnic groups in India provides the rationale for the screening of individual populations to better understand the distribution of the ß(S) gene, guide counseling and awareness programs and aid development of public policy. We undertook a study to describe the prevalence of the ß(S) gene in these ethnic groups in the district of Nagpur, Maharashtra in Central India. Through community screening and subsequent targeted screening of high risk individuals, 35,636 individuals were screened, of whom 5466 were found to have sickle cell trait and 1010 were identified with sickle cell disease. Community screening revealed a sickle cell trait prevalence of 13.0% in the SC, 12.0% in the ST and 3.4% in the OBC population. This study describes the prevalence of the ß(S) gene within these groups in Central India determined by large scale community screening. This program has uncovered previously undiagnosed cases, provided detailed information to guide population-based disease counseling, prevention and comprehensive care programs.

Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety.

PURPOSE: The primary purpose of newborn screening for hemoglobinopathies is the presymptomatic diagnosis and early treatment of sickle cell disease. Hemoglobinopathy traits detected on the newborn screening provide an opportunity for genetic counseling of families regarding the trait and information that may impact reproductive decisions of the parents. We describe the results of a study to determine the impact of newborn screening and genetic counseling on the lives of families in which an abnormal hemoglobin trait had been identified. METHODS: From June 2003 to December 2009, families of children with trait attending a clinic visit and receiving professional genetic counseling were asked to participate in a semistructured follow-up survey regarding their experience and the impact of genetic counseling on their families. RESULTS: Of the 300 patients seen in clinic during the specified time period, 209 consented to be recontacted and 114 have completed the survey. Eighty-five percent of responders reported knowing that the newborn screen had been performed, but only 55% understood the purpose of newborn screening. When asked about the effect of finding out that trait was present in their baby, 19% reported feeling guilty or upset, whereas 4% believed that their partner blamed them for the child's results. That genetic counseling was found to be beneficial was indicated by the fact that 99% reported that their questions were answered, 82% reported feeling less anxious, and 78% discussed the trait with their partner after the appointment. CONCLUSIONS: Genetic counseling after newborn screening relieves anxiety, provides knowledge, facilitates dialog within families and between partners about hemoglobinopathy trait, and was seen as a positive experience for the majority of responders.

Attitudes and beliefs of African-Americans toward genetics, genetic testing, and sickle cell disease education and awareness.

Research among African-Americans indicates this population perceives sickle cell (SCD) to be a serious disease and sickle cell trait (SCT) screening an important intervention. However, studies have consistently demonstrated a lower than desired uptake of SCD education, inadequate knowledge regarding personal and family trait status, and a low perceived susceptibility of giving birth to a child with the disease. We examined general attitudes and beliefs regarding genetics and genetic testing including prenatal testing and newborn screening; we used this information as the foundation to more specifically assess attitudes and beliefs regarding SCD and perceived barriers to SCD education and awareness. Thirty-five African-American adult men and women participated in one of four focus groups. Thematic analysis identified that both prenatal testing and newborn screening are acceptable forms of genetic testing. Based largely on their personal experiences, participants possessed an understanding of the natural progression of SCD but had a limited understanding of the inheritance and probable risk of giving birth to a child with the disease. Barriers to education and greater awareness of SCD were classified as personal, familial, and societal. Community based interventions focused on sharing the stories of individuals with first-hand experiences with SCD should be considered.

Using a family history intervention to improve cancer risk perception in a black community.

Few studies examine the use of family history to influence risk perceptions in the African American population. This study examined the influence of a family health history (FHH) intervention on risk perceptions for breast (BRCA), colon (CRC), and prostate cancers (PRCA) among African Americans in Pittsburgh, PA. Participants (n = 665) completed pre- and post-surveys and FHHs. We compared their objective and perceived risks, classified as average, moderate, or high, and examined the accuracy of risk perceptions before and after the FHH intervention. The majority of participants had accurate risk perceptions post-FHH. Of those participants who were inaccurate pre-FHH, 43.3%, 43.8%, and 34.5% for BRCA, CRC, and PRCA, respectively, adopted accurate risk perceptions post-FHH intervention. The intervention was successful in a community setting. It has the potential to lead to healthy behavior modifications because participants adopted accurate risk perceptions. We identified a substantial number of at-risk individuals who could benefit from targeted prevention strategies, thus decreasing racial/ethnic cancer disparities.

Perceptions of economic hardship and emotional health in a pilot sample of family caregivers.

Although several studies have quantified costs of cancer care; none to date have examined how cancer costs impact family caregivers' emotional health. This study was designed to evaluate how perceptions of economic hardship influence burden, depressive symptoms, and anxiety in family caregivers of persons with a primary malignant brain tumor. Caregiver (CG)/patient dyads (n = 33) were recruited at the time of diagnosis; data were collected at diagnosis and 4 months, and linear regression determined the impact of economic hardship on caregivers' emotional health. Economic hardship did not predict CG burden-schedule at diagnosis or 4 months. Economic hardship predicted burden-abandonment at diagnosis (P < 0.01), but not 4 months. There was a trend for economic hardship to predict CG depressive symptoms at 4 months (P = 0.09), but not at diagnosis. Economic hardship predicted CG anxiety at 4 months (P = 0.06), but not diagnosis. Results suggest caregivers' economic hardship is an important and dynamic aspect of the emotional health of neuro-oncology family caregivers.

Psychiatric disorders in clinical genetics I: Addressing family histories of psychiatric illness.

This is the first article of a two-part professional development series addressing genetic counseling for personal and family histories of psychiatric disorders. It is based on an Educational Breakout Session presented by the Psychiatric Special Interest Group of the National Society of Genetic Counselors at the 2006 Annual Education Conference. This article examines issues that arise in addressing family histories of psychiatric illness, while the second article in the series considers the generation and provision of individualized recurrence risks for psychiatric disorders. In this article we discuss the importance of managing uncertainty for affected individuals and their close family members who have been referred to genetics for a number of different indications. We then use four simulated cases to make recommendations about the scope and timing of discussions related to the psychiatric family history.

Psychiatric disorders in clinical genetics II: Individualizing recurrence risks.

This is the second article of a two-part professional development series on genetic counseling for personal and family histories of psychiatric disorders. It is based on an Educational Breakout Session presented by The Psychiatric Special Interest Group of the National Society of Genetic Counselors at the 2006 Annual Education Conference. While the first article in this two part series dealt with addressing family histories of psychiatric disorders in clinical practice, the following discussion deals with the generation and provision of individualized recurrence risks for psychiatric disorders, based on empiric risk data. We present four cases that illustrate important components of and process for generating individualized risk assessment for family histories of psychiatric disorders.

The use of family health histories to address health disparities in an African American community.

African Americans continue to suffer from health disparities. The Center for Minority Health (CMH) within the University of Pittsburgh has the mission to eliminate racial and ethnic health disparities. CMH has designed and implemented the Family Health History (FHH) Initiative. The FHH Initiative places genetic-counseling graduate students in the African American community to provide risk assessments and emphasize the importance of family history as it pertains to disease prevention. The FHH Initiative also allows participants to enroll into the Minority Research Recruitment Database (MRRD). This enables CMH to alert individuals to available research participation opportunities. In the first year of this program, 225 African Americans completed their family health histories. More than 60% of individuals enrolled in the MRRD. The authors report their initial successes and challenges of an initiative that incorporates awareness of family history information, proper screening guidelines, behavior-modification recommendations, and support for participation in clinical research.

Stratifying empiric risk of schizophrenia among first degree relatives using multiple predictors in two independent Indian samples.

BACKGROUND: Schizophrenia (SZ) has an estimated heritability of 64-88%, with the higher values based on twin studies. Conventionally, family history of psychosis is the best individual-level predictor of risk, but reliable risk estimates are unavailable for Indian populations. Genetic, environmental, and epigenetic factors are equally important and should be considered when predicting risk in 'at risk' individuals. OBJECTIVE: To estimate risk based on an Indian schizophrenia participant's family history combined with selected demographic factors. METHODS: To incorporate variables in addition to family history, and to stratify risk, we constructed a regression equation that included demographic variables in addition to family history. The equation was tested in two independent Indian samples: (i) an initial sample of SZ participants (N=128) with one sibling or offspring; (ii) a second, independent sample consisting of multiply affected families (N=138 families, with two or more sibs/offspring affected with SZ). RESULTS: The overall estimated risk was 4.31±0.27 (mean±standard deviation). There were 19 (14.8%) individuals in the high risk group, 75 (58.6%) in the moderate risk and 34 (26.6%) in the above average risk (in Sample A). In the validation sample, risks were distributed as: high (45%), moderate (38%) and above average (17%). Consistent risk estimates were obtained from both samples using the regression equation. CONCLUSIONS: Familial risk can be combined with demographic factors to estimate risk for SZ in India. If replicated, the proposed stratification of risk may be easier and more realistic for family members.

Genetics in dental practice: social and ethical issues surrounding genetic testing.

It is evident that human genetic variation is associated with many if not all human diseases including the more prevalent chronic diseases. As a result, genetics is becoming integrated into health care in all medical specialties, including oral medicine and its specialties. At the level of public health, genetic information will become increasingly important in research, policy, and program development. As application of genome technologies moves from the research laboratory to the clinical setting, a complex array of challenges will face dental clinicians in their efforts to use genetic information to improve health care and prevent disease on an individual, family, and community level. The broader social, ethical, and legal implications raised by the clinical use of genomic information have not received the same attention as did recent gene identification aspects of the Human Genome Project. The goal of this review is to foster attention and dialogue within the dental community of the ethical and social issues emerging from the availability of genetic information. Specific areas addressed include genetic testing, confidentiality, discrimination, informed consent, risk communication, and professional education.

Status of genetics education in U.S. dental schools.

Genomics research is rapidly increasing our understanding of the genetic basis of normal and abnormal growth, development, and disease. Genetic information and technologies are also being applied to develop new diagnostic and treatment strategies. Many diseases with dental, oral, and craniofacial manifestations have a genetic basis. Effective clinical application of genomics to oral medicine will depend on the education of health care professionals, the general public, and policymakers. Dentists must understand genetics to provide accurate information to patients and be able to discuss benefits and limitations of the biological, clinical, and ethical issues related to genomic-based health care. Genetics education in dental schools will significantly impact the integration of genetics into oral medicine. Fifty-three U.S. dental schools completed a survey in 2001 to assess the status of genetics curricula in dental schools in the United States. Ninety-four percent of schools did not require genetics education for entry to dental school, and a formal genetics course was conducted in only eight of the fifty-three schools (15 percent). The genetics education currently offered to undergraduate dental students is not standardized, and the content varies considerably among schools. These findings suggest more emphasis on genetics education is needed in U.S. dental schools.

A comparative study of health locus of control in patients with schizophrenia and their first degree relatives.

BACKGROUND AND AIMS: An individual's behaviour may be predicted from their beliefs about their locus of control (attribution). A person's "locus" can be internal or external. The present study aimed at comparing the locus of control as measured by Multidimensional Health Locus of Control Scale (MHLC) in patients with schizophrenia and their healthy first degree relatives. We hypothesized that persons with schizophrenia have different locus of control than their first degree relatives. METHOD: Multidimensional Health Locus of Control Scale (MHLC) was first translated and validated in Hindi by bilingual students (N = 71). Consecutive patients affected with schizophrenia (SZ) (N = 125) and their siblings/offsprings (N = 119) were recruited. Diagnostic Interview for Genetic Studies and MHLC Scale were administered after written informed consent. RESULTS: There was moderate intra-class correlation between Hindi and English versions of MHLC Scale. Schizophrenia patients were found to have more of 'chance' locus of control (F 6.625, p = 0.011) whereas their first degree relatives have more of 'internal' locus of control (F 6.760, p = 0.010). CONCLUSION: Patients with SZ attributed their health to external factors which has been found to be associated with poor or late recovery. These findings may provide a theoretical base for developing intervention strategies to promote behavioural changes in patients.

Health beliefs among African American women regarding genetic testing and counseling for sickle cell disease.

PURPOSE: The Health Belief Model can help in understanding low acceptance of disease prevention and screening. We studied health beliefs of African American women to determine causes of low acceptance of genetic testing and counseling despite high prevalence of sickle cell disease and heterozygotes in this population. METHODS: An anonymous questionnaire using a 12-question measure with a 5-point Likert scale response was administered to 101 African American women attending an obstetrics and gynecology clinic to determine knowledge of sickle cell disease, perception of risk, severity, likelihood of benefit and barriers to counseling. RESULTS: The cumulative mean perceived scores on the 5-point Likert scale were 4.22 +/- 0.88 for severity of sickle cell disease, 4.10 +/- 1.03 for benefit of genetic testing, 2.28 +/- 1.00 for barriers to testing, and 2.62 +/- 1.06 for risk of having a child with sickle cell disease. High average level knowledge was associated with high perception of severity and benefit to screening (P < 0.05). CONCLUSION: African American women have a relatively high belief of the severity of sickle cell disease and benefits of genetic counseling but frequently do not appear to believe that they are at risk of having a child with the disease. This should be taken into account in the design of educational and counseling strategies.

Systematic follow-up and case management of the abnormal newborn screen can improve acceptance of genetic counseling for sickle cell or other hemoglobinopathy trait.

PURPOSE: Sickle cell or other hemoglobinopathy trait detected on the newborn screen provides an opportunity for genetic counseling of families at risk of having a child with a major hemoglobinopathy. However, follow-up of hemoglobinopathy trait is often fragmented and acceptance of counseling is low. We describe the results of systematic follow-up and case management of abnormal newborn screen and the effect on acceptance of counseling. METHODS: From July 1997 to June 2002, families of a newborn with hemoglobinopathy trait were notified by mail. In April 2003, an intensive trait follow-up protocol including letters, telephone calls, educational videos, and genetic counseling was implemented. Demographic information and follow-up activity were documented and tracked using an electronic database. RESULTS: From July 1997 to June 2002, 3095 families were notified by letter of a newborn with hemoglobinopathy trait and were offered genetic counseling. Of these, 165 (5.3%) received counseling by telephone and 60 (2%) underwent extended family testing. From April to December 2003, 694 families with a newborn with hemoglobinopathy trait were notified by mail. Of these, 362 (52%) families were reached by telephone. Of those contacted by telephone, 92% received genetic counseling via telephone, 57% were interested in family testing, and 12% scheduled an appointment. Additionally, 27% of families were mailed an educational video. Among those declining extended family testing, 26% preferred to consult their pediatrician. CONCLUSIONS: Systematic follow-up and case management of abnormal newborn screen can improve the acceptance of genetic counseling.