Direct-to-consumer genetic testing: where and how does genetic counseling fit?

Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to ‘research’ results conferring increased risks. While being targeted at public curious about their health, they are also marketed for use in reproductive decision-making or management of disease. By virtue of being ‘direct-to-consumer’ much of this testing bypasses traditional healthcare systems. We argue that direct-to-consumer genetic testing companies should make genetic counseling available, pre- as well as post-test. While we do not advocate that mandatory genetic counseling should gate-keep access to direct-to-consumer genetic testing, if the testing process has the potential to cause psychological distress, then companies have a responsibility to provide support and should not rely on traditional healthcare systems to pick up the pieces

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.

Adrenal insufficiency is a rare, but potentially fatal medical condition. In children, the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that share adrenal insufficiency as one of the main characteristics. The evolution of adrenal insufficiency is dependent on the variant and the particular gene affected, meaning that rapid and accurate diagnosis is imperative for effective treatment of the patient. Common practice is for candidate genes to be sequenced individually, which is a time-consuming process and complicated by overlapping clinical phenotypes. However, with the availability, and increasing cost effectiveness of whole-exome sequencing, there is the potential for this to become a powerful diagnostic tool. Here, we report the results of whole-exome sequencing of 43 patients referred to us with a diagnosis of familial glucocorticoid deficiency (FGD) who were mutation negative for MC2R, MRAP, and STAR the most commonly mutated genes in FGD. WES provided a rapid genetic diagnosis in 17/43 sequenced patients, for the remaining 60% the gene defect may be within intronic/regulatory regions not covered by WES or may be in gene(s) representing novel etiologies. The diagnosis of isolated or familial glucocorticoid deficiency was only confirmed in 3 of the 17 patients, other genetic diagnoses were adrenal hypo- and hyperplasia, Triple A, and autoimmune polyendocrinopathy syndrome type I, emphasizing both the difficulty of phenotypically distinguishing between disorders of PAI and the utility of WES as a tool to achieve this

On the relevance of the “genetics-based” approach to medicine for sociological perspectives on medical specialization

This paper draws on a study on the development of medical genetics as a medical specialism in the UK and Canada to reflect on how local and national contexts affect specialty formation. The paper begins by supporting earlier findings in the literature that stress, first, technological innovations as driving specialty formation, and, second, the domination of physicians in the division of medical labour. Beyond this, however, the paper explores the specific circumstances under which geneticists set about turning their work into a medical specialism based on a “genetics-based approach” to illness and how “medical genetics” as a specialism was assessed and configured to fit national and regional health service requirements

Genetic services and attitudes in primary care pediatrics

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/102660/1/ajmga36339.pd

POLICY ISSUES ASSOCIATED WITH UNDERTAKING A NEW LARGE U.S. POPULATION COHORT STUDY OF GENES, ENVIRONMENT, AND DISEASE. REPORT OF THE SECRETARY'S ADVISORY COMMITTEE ON GENETICS, HEALTH, AND SOCIETY

SACGH

Genetics Education and Training of Health Care Professionals, Public Health Providers, and Consumers: Draft Report of the Secretary's Advisory Committee on Genetics, Health, and Society [Available for public comment until June 30, 2010]

SACGH

Realizing the Potential of Pharmacogenomics: Opportunities and Challenges. Report of the Secretary's Advisory Committee on Genetics, Health, and Society

SACGHSThe report explores the potential for pharmacogenomics (PGx) to advance the development of diagnostic, therapeutic, and preventive strategies to improve the safety, effectiveness, and quality of health care; identifies opportunities and critical barriers in need of the Federal Government s attention; and makes 35 policy recommendations aimed at enhancing the development and integration of PGx applications. [from SACGHS email announcement

POLICY ISSUES ASSOCIATED WITH UNDERTAKING A NEW LARGE U.S. POPULATION COHORT STUDY OF GENES, ENVIRONMENT, AND DISEASE. REPORT OF THE SECRETARY'S ADVISORY COMMITTEE ON GENETICS, HEALTH, AND SOCIETY

SACGH