Background
Personal cancer diagnosis and family cancer history factor into which individuals should undergo genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome. Family history is ...often determined in the research setting through kindreds with disease clusters, or clinically from self‐report. The population prevalence of individuals with diagnostic characteristics and/or family cancer history meeting criteria for HBOC testing is unknown.
Methods
Utilizing Surveillance, Epidemiology, and End Results (SEER) cancer registry data and a research resource linking registry records to genealogies, the Utah Population Database, the population‐based prevalence of diagnostic and family history characteristics meeting National Comprehensive Cancer Network (NCCN) criteria for HBOC testing was objectively assessed.
Results
Among Utah residents with an incident breast cancer diagnosis 2010‐2015 and evaluable for family history, 21.6% met criteria for testing based on diagnostic characteristics, but the proportion increased to 62.9% when family history was evaluated. The proportion of cases meeting testing criteria at diagnosis was 94% for ovarian cancer, 23% for prostate cancer, and 51.1% for pancreatic cancer. Among an unaffected Utah population of approximately 1.7 million evaluable for family history, 197,601 or 11.6% met testing criteria based on family history.
Conclusions
This study quantifies the population‐based prevalence of HBOC criteria using objectively determined genealogy and cancer incidence data. Sporadic breast cancer likely represents a portion of the high prevalence of family cancer history seen in this study. These results underline the importance of establishing presence of a deleterious mutation in an affected family member, per NCCN guidelines, before testing unaffected relatives.
Using diagnostic and family history data, almost 63% of individuals with breast cancer diagnoses meet criteria for genetic testing based on diagnostic and family history. Utilizing the Utah Population Database, a research resource that links of four decades of cancer registry records to genealogies, almost 12% of the unaffected Utah population meets criteria for genetic testing. Given the high proportion of the population, targeting affected cases can maximize family impact while minimizing cost.
In order to evaluate the utility of genetic counseling at the time of first trimester screening in patients with no previously identified genetic concerns, we reviewed family history data for 700 ...women seen for genetic counseling in Utah during 2005–2006. The mean maternal age was 35 years (Range: 16–47 years). The majority of patients seen were non-Jewish Caucasians (90.8%, 634/700). A three-generation pedigree was obtained from each woman by one of two certified genetic counselors and subsequently classified as “negative” (no birth defects/genetic disorders); “positive” (birth defect or genetic condition with a minimal/low risk of recurrence; additional evaluation/genetic testing during pregnancy not indicated); or “significant” (birth defect or genetic condition with an increased risk of recurrence; additional evaluation/genetic testing during the pregnancy indicated). About 72% (501/700) of the histories were negative, 19% (134/700) were positive, and about 9% (65/700) were significant. Among patients with significant family histories, 66% (
n
= 43) were women less than 35 years of age. We conclude that assessing a patient’s family history at the time of first trimester serum screening is a valuable resource for pregnancy management.
In 1990 Marles and Chudley reported on an infant with absent ulnae and concomitant radial hypoplasia, oligodactyly, hydrops fetalis, and apparent endocardial fibroelastosis (EFE) and, on the basis of ...phenotype and parental consanguinity, postulated autosomal recessive inheritance. Recently we were privileged to study parts of a fetus who had presented at ultrasonography with cardiac calcifications, micrognathia, and severe ulnar dysgenesis. The small pieces of heart we received showed neither endocardial fibroelastosis nor calcifications. Thus, we had initial doubts that we were dealing with the Marles-Chudley syndrome. However, a review by Chudley of the heart findings in his cases did show the calcifications usually seen in primary or secondary EFE. The parents of Dr. Chudley's patient were Filipino; the father of our patient was a Samoan. This suggests that there exists a gene for autosomal recessive Marles-Chudley syndrome in the Polynesian population with pleiotropic effects on upper limb development and cardiac histogenesis.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The clinical use of genomic analysis has expanded rapidly resulting in an increased availability and utility of genomic information in clinical care. We have developed an infrastructure utilizing ...informatics tools and clinical processes to facilitate the use of whole genome sequencing data for population health management across the healthcare system. Our resulting framework scaled well to multiple clinical domains in both pediatric and adult care, although there were domain specific challenges that arose. Our infrastructure was complementary to existing clinical processes and well-received by care providers and patients. Informatics solutions were critical to the successful deployment and scaling of this program. Implementation of genomics at the scale of population health utilizes complicated technologies and processes that for many health systems are not supported by current information systems or in existing clinical workflows. To scale such a system requires a substantial clinical framework backed by informatics tools to facilitate the flow and management of data. Our work represents an early model that has been successful in scaling to 29 different genes with associated genetic conditions in four clinical domains. Work is ongoing to optimize informatics tools; and to identify best practices for translation to smaller healthcare systems.
Think back to when you were an adolescent. Remember the incredible peer pressure? The intense competition? The terrible insecurity?The transition from childhood to adulthood is never easy. And when ...pressure mounts, really mounts, an adolescent may decide he canʼt handle it. He may try to take his life.Three simple actions could stop himRecognize the cues heʼll give; talk to him; and listen to him. AH are part of your role in PREVENTING ADOLESCENT SUICIDE
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK, VSZLJ
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