Biomedical subjects

Joann Bodurtha

Publications and source records attributed to Joann Bodurtha.

5 recordsLinked to original sources

PubMed2025

The 2023 medical genetics workforce in the United States.

PURPOSE: To characterize the 2023 medical genetics and genomics workforce in the United States-comprising clinical geneticists, genetic counselors, genetic nurses, genetic physician assistants, laboratory geneticists, and metabolic dietitians-to inform genetics workforce efforts. METHODS: National genetics membership or board-certification organizations distributed an electronic survey to medical genetics professionals in early 2023. Questions were derived from prior workforce surveys and by a workgroup led by the National Coordinating Center for the Regional Genetics Networks. RESULTS: Of the 3070 medical genetics professionals who responded, 66.0% were genetic counselors, 15.4% were clinical geneticists, 12.2% were laboratory geneticists, 4.7% were metabolic dietitians, and 1.7% were genetic nurses or physician assistants. The respondents identified as White (76.1%) and women (84.7%); there were statistically significant differences between disciplines. Forty percent worked in academic centers; 55.3% worked 41+ hours per week. Nearly 11% of respondents provided services in a language other than English. Despite 34.7% of respondents experiencing some burnout, most had no plans to leave the field (94.4%) within the next year. CONCLUSION: The medical genetics community needs to advance workforce initiatives to support current personnel and attract new and diverse individuals to the field to serve patients and their families.

Humans↗

PubMed2006

Paternal relatives and family history of breast cancer.

BACKGROUND: Reported family medical history may be the most widely accessible genomics screen currently available. The worth of any population-screening tool may be measured by parameters such as sensitivity and specificity. There is some evidence and theory suggesting that family history of breast cancer may be more frequently communicated about maternal (versus paternal) lines. If true, a discrepancy in reporting family history of breast cancer could mean suboptimal accuracy for this genomics-screening tool. METHODS: A cross-sectional analysis of reported family history of breast cancer was conducted beginning in early fall 2005 of data collected from April 2003 to March 2005. Study participants were Women's Health Clinic patients without breast cancer aged at least 40 years. The number of women reporting extended paternal relatives (e.g., aunts, grandmothers) with breast cancer was compared to the number of women reporting maternal relatives. RESULTS: More women reported a maternal relative with breast cancer (16%) compared to those reporting paternal relatives (10%) (McNemar odds ratio = 1.71, 95% confidence interval = 1.26 to 2.34). A discrepancy remained in analyses adjusting for potential covariates (race/ethnicity, awareness of breast cancer, family communication about breast cancer, and perceived risk). CONCLUSIONS: Self-reported family history of breast cancer may not optimally capture inherited risk from the father's side of the family. Further research is needed to look for modifiable contributors to this discrepancy to optimize screening for familial breast cancer.

Adult↗

PubMed2004

Gail model risk assessment and risk perceptions.

Patients can benefit from accessible breast cancer risk information. The Gail model is a well-known means of providing risk information to patients and for guiding clinical decisions. Risk presentation often includes 5-year and life-time percent chances for a woman to develop breast cancer. How do women perceive their risks after Gail model risk assessment? This exploratory study used a randomized clinical trial design to address this question among women not previously selected for breast cancer risk. Results suggest a brief risk assessment intervention changes quantitative and comparative risk perceptions and improves accuracy. This study improves our understanding of risk perceptions by evaluating an intervention in a population not previously selected for high-risk status and measuring perceptions in a variety of formats.

Adult↗

PubMed2003

Increased risk of birth defects among children from multiple births.

BACKGROUND: Multiple births are increasing, and may be associated with birth defects. METHODS: To explore this relationship, data from the Virginia birth defects registry (VaCARES) was analyzed. RESULTS: During 1989-1998, a total of 44505 children from singleton births and 2258 children from multiple births were born with birth defects in Virginia. The risk of birth defects was significantly increased in children from multiple births as compared to singleton births (birth defect rate per 10000 live births: singleton 482.3, twin 922.0, triplet 1300.0, and quadruplet or higher 2222.2). Increased risk was observed for 39 of 86 diagnoses. The five diagnoses with the highest risk ratio per 10000 live births (RR) were: neurofibromatosis (RR, 12.80), retrolental fibroplasia (RR, 9.96), microphthalmos (RR, 5.24), pulmonary valve anomalies (RR, 5.00), and patent ductus arteriosus (RR, 4.68). A significantly reduced risk ratio for congenital hip dislocation was found in these children (RR, 0.54). In most multiple births, only one child was born with birth defects (81% in twin births, 71% in triplet births, and 56% in quadruplet and higher births). The diagnosis of birth defects might be concordant or discordant for children in which all siblings had birth defects. The children from multiple births who had birth defects were generally preterm and had significantly lower birth weight. A higher fatality and mortality rate and longer hospital stay were also observed. CONCLUSIONS: Overall, children from multiple births have an increased risk of birth defects.

Congenital Abnormalities↗

PubMedDate not supplied

The link between providers and patients: how laboratories can ensure quality results with genetic testing.

Advances in genetic testing technology can provide important opportunities for health improvement. Simultaneously, they entail complexity in laboratory analysis and interpretation. The nature of genetic testing may engender implications distinct from other diagnostic tests. In this article, we summarize these implications, including the role of informed consent; quality assurance in diagnostic testing services; interpretation of the test results; patient support; appropriate disclosure; and regulations relevant for laboratories involved with genetic tests. Research and clinical laboratories need to stay abreast of these advancing technologies and their implications for health-care patients and providers. Collaboration between testing personnel, geneticists, and other health-care providers is necessary to ensure that patients receive the full benefits from testing, including a clear understanding of their genetic test information.

Adult↗