The Role of Genetic Counselors for Patients with Familial Hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is the most common inherited cause of premature coronary heart disease and leads to significant morbidity and mortality. Genetic counselors are specialized health care professionals with advanced degrees and training in both medical genetics and psychosocial counseling. FH patients and their families require focused education regarding the heritable nature of their disease, the risk to family members, the necessity of cascade screening, and the availability of genetic testing. Patients and families may also benefit from additional services genetic counselors provide, such as psychosocial support and other resources. All of these services are well-established components of the genetic counseling process. Therefore, genetic counselors can serve as a valuable resource to FH patients, their families, and the multidisciplinary team of clinicians providing care for these patients.

The Agenda for Familial Hypercholesterolemia

“…138 Genetic counselors can facilitate genetic testing and interpret genetic test results. Counseling on the utility of genetic testing includes confirming the diagnosis of FH for the proband, cascade screening for the mutation in relatives with clinical features of FH, and screening of at-risk relatives not yet identified.…”

A Half-Century History of Applications of Antisense Oligonucleotides in Medicine, Agriculture and Forestry: We Should Continue the Journey

“…Kynamro ® (mipomersen, Genzyme/Isis) was approved by the U.S. FDA in January 2013 for use in the treatment of familial hypercholesterolemia (FH) [ 65 , 66 ]. FH, the most common inherited cause of premature coronary heart disease, entails significant morbidity and mortality [ 27 ], with a prevalence of approximately 1 person in every 200–500 among those who are heterozygotes in North America and Europe [ 67 ]. The drug, developed as a 20-mer of nucleotides (polynucleotide of 20 bases), has a sequence complementary to that of a segment of human Apo B-100 mRNA.…”

“…Later, in the first few years of the current century, a few scientists have envisaged the use of RNA interference (RNAi) itself as an insect pest control tool by targeting vital genes [ 25 ], including those of transgenic plants engineered to express dsRNAs, which would be ingested by the target insects [ 26 , 27 ]. Using RNAi and double-stranded RNA (dsRNA) fragments to create non-chemical pesticides has potential in the ongoing effort to control insect pests, particularly lepidopterans [ 28 , 29 ].…”

We Should Continue the Half-Century History of Applications of Antisense Oligonucleotides in Medicine, Agriculture and Forestry: A Mini-Review

“…Later, in the first few years of the new century, a few scientists envisaged the use of RNA interference (RNAi) itself as an insect pest control tool by targeting vital genes [25], including those of transgenic plants engineered to express dsRNAs, which would be ingested by the target insects [26,27]. Using RNAi and double-stranded RNA (dsRNA) fragments to create nonchemical pesticides has potential in the ongoing effort to control insect pests, particularly lepidopterans [28,29].…”