Answer 2 for DNP 810 What model would you use to create a multigenerational family health history for a patient?

Answer 2 for DNP 810 What model would you use to create a multigenerational family health history for a patient?

Family health history is a risk factor for any health condition. Multiple generations and multiple family members can be challenging and genetics and environment can reflect health issues. Routinely-collected electronic databases have many advantages for constructing family health histories and they can provide objective measures of health, complete or near-complete coverage of the population of a country or region, and span multiple decades, generations, and family members. Requiring adjustment and management from the family system, particularly when the diagnosis is recent and the importance of the role of provider to inform and educate family members.

A recent study using a family-systems perspective showed how an HD diagnosis opened up a process of “making sense” about the disease in the family, contributing to improved awareness and activating a transgenerational process to understand it (Oliveira et al. 2020). Huntington Disease (HD) is characterized by involuntary movements with cognitive and behavioral disturbances. It occurs as a result of cytosine, adenine, and guanine (CAG) trinucleotide repeats on the short arm of chromosome 4p16.3 in the Huntingtin (HTT) gene. Diagnosis can be made clinically in a patient with motor and or cognitive and behavioral disturbances with a parent diagnosed with HD and can be confirmed by DNA determination. There is no cure for the disease, and affected patients tend to be entirely dependent on their caregiver as the disease progresses. The treatment is aimed at improving the quality of life and decreasing complications. There are therapies under investigation and still working on it if it will be appropriate for HD patients. Experimental therapies include pridopidine, laquinimod as well as a semaphorin-4D neutralizing antibody that are still in development. Gene silencing to target the cause of HD has been shown to be safe in preclinical animal studies. These aim to either silence all HTT expression non-selectively or selectively for the mutated HTT allele. Cell transplantation has shown variable results and safety, as well as the efficacy of intravenously injecting mesenchymal stem cells, is being tested. Recent studies suggest that the mutated HTT gene can spread into the allografted neural tissue. The management of HD is challenging and complex and treatment team should include  expertise of a psychologist, psychiatrist, physiatrist, internist, family practitioner, and social worker. should provide a standardized medical, surgical, and non-pharmacological treatment to improve the care and quality of life of patients. The nurses will assist the team by monitoring the patient for pain, atelectasis, and deep vein thrombosis and to improve the quality of life. The need for planning and discussion with other professionals involved in the management of the patient is highly recommended to lower the morbidity and improve outcomes. The roles emerging in this study, in comparison with data available for other genetic conditions, such as FAP (Oliveira et al. 2017a) and hereditary cancers (Ashida et al. 2011), portray participant families as “beginners” in understanding and incorporating HD in their lives.

References:

Ashida S, Hadley DW, Goergen AF, Skapinsky KF, Devlin HC, Koehly LM. The importance of older family members in providing social resources and promoting cancer screening in families with a hereditary cancer syndrome. Gerontologist. 2011;51:833–842. doi: 10.1093/geront/gnr049.

Caron NS, Wright GEB, Hayden MR. Huntington Disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. University of Washington, Seattle; Seattle (WA): Oct 23, 1998. [PubMed]