Experiences and attitudes of hereditary cancer screening patients in a consumer directed testing model.

BACKGROUND: Since 2015, the Information is Power initiative has offered free and reduced cost hereditary cancer screening to the North Alabama population with a consumer-initiated model. Patients received pre-test and post-test education through a genetic counseling video. Positive results also received a call from a genetic counselor. OBJECTIVE: We surveyed past Information is Power patients to assess if video education and electronic result delivery addressed the needs of a hereditary cancer screening population. METHODS: An electronic survey was sent out to Information is Power patients who opted into research contact. The survey assessed participant knowledge, satisfaction with result delivery, and perceived uncertainty after receiving test results. RESULTS: 213 participants completed the survey. Eighteen percent of participants would have preferred individual communication with a genetics specialist about their results. Over 99 % of survey participants correctly interpreted a positive result, while 73 % correctly interpreted a negative result. Overall, participants were certain about the impact of their genetic test results. PRACTICE IMPLICATIONS: These findings support a model of population genetic testing and genetic counseling that is sustainable while meeting the educational needs of most participants. Observed misconceptions surrounding a negative result should be highlighted in future population screening patient resources to meet patient needs.

Application of specific extracorporeal removal of low density lipoprotein in familial hypercholesterolaemia.

A highly selective method for the removal of apolipoprotein-B-containing serum lipoproteins (low density lipoproteins [LDL] and very-low-density lipoproteins [VLDL]) from hypercholesterolaemic patients by immunoadsorption in an extracorporeal system consists of separation of plasma from the blood cells by a blood-separation centrifuge, followed by the selective adsorption of LDL from the plasma effluent, from which high-density lipoproteins (HDL) and other plasma proteins are not removed, is returned to the patient with the blood cells. Three patients with familial hypercholesterolaemia, one homozygous and two heterozygous, were treated repeatedly during a period of 9 months. No undesirable side-effects or changes in clinical, chemical, haematological, or immunological parameters have yet been observed. The new procedure has several advantages over treatments currently used; it is non-invasive, more specific, and less costly and lowers LDL to a greater degree.