BACKGROUND: The MyCode Community Health Initiative (MyCode) is returning actionable results from whole exome sequencing. Familial hypercholesterolemia (FH) is an inherited condition characterized by premature cardiovascular disease. METHODS: We used multiple methods to assess care in 28 MyCode participants who received FH results. Chart reviews were conducted on 23 individuals in the sample and 7 individuals participated semistructured interviews. RESULTS: Chart reviews for 23 individuals with a Geisinger primary care provider found that 4 individuals (17% of 23) were at LDL-C (low-density lipoprotein cholesterol) goal (of either LDL-C <100 mg/dL for primary prevention and LDL-C <70 mg/dL for secondary prevention) and 17 individuals (74% of 23) were prescribed lipid-lowering therapy before genetic result disclosure. After disclosure of the genetic test result, 5 individuals (22% of 23) met their LDL-C goal and 18 individuals (78% of 23) were prescribed lipid-lowering therapy. Follow-up care about this result was not documented for 4 individuals (17% of 23). Changes to intensity of medication management were made for 8 individuals (47% of 17 individuals previously prescribed lipid-lowering therapy). Interviewed individuals (n=7) were not surprised by their result as all knew they had high cholesterol; however, individuals did not seem to discern FH as a separate condition from their high cholesterol. CONCLUSIONS: Among individuals receiving genetic diagnosis of FH, >25% had no changes to lipid-lowering therapy, despite not being at LDL-C goal and learning their high cholesterol is related to a genetic condition requiring more aggressive treatment. Individuals and clinicians may have an inadequate understanding of FH as a distinct condition requiring enhanced medical management.
BACKGROUND: The MyCode Community Health Initiative (MyCode) is returning actionable results from whole exome sequencing. Familial hypercholesterolemia (FH) is an inherited condition characterized by premature cardiovascular disease. METHODS: We used multiple methods to assess care in 28 MyCode participants who received FH results. Chart reviews were conducted on 23 individuals in the sample and 7 individuals participated semistructured interviews. RESULTS: Chart reviews for 23 individuals with a Geisinger primary care provider found that 4 individuals (17% of 23) were at LDL-C (low-density lipoprotein cholesterol) goal (of either LDL-C <100 mg/dL for primary prevention and LDL-C <70 mg/dL for secondary prevention) and 17 individuals (74% of 23) were prescribed lipid-lowering therapy before genetic result disclosure. After disclosure of the genetic test result, 5 individuals (22% of 23) met their LDL-C goal and 18 individuals (78% of 23) were prescribed lipid-lowering therapy. Follow-up care about this result was not documented for 4 individuals (17% of 23). Changes to intensity of medication management were made for 8 individuals (47% of 17 individuals previously prescribed lipid-lowering therapy). Interviewed individuals (n=7) were not surprised by their result as all knew they had high cholesterol; however, individuals did not seem to discern FH as a separate condition from their high cholesterol. CONCLUSIONS: Among individuals receiving genetic diagnosis of FH, >25% had no changes to lipid-lowering therapy, despite not being at LDL-C goal and learning their high cholesterol is related to a genetic condition requiring more aggressive treatment. Individuals and clinicians may have an inadequate understanding of FH as a distinct condition requiring enhanced medical management.
Authors: Laney K Jones; Natasha T Strande; Evan M Calvo; Jingheng Chen; Gabriela Rodriguez; Cara Z McCormick; Miranda L G Hallquist; Juliann M Savatt; Heather Rocha; Marc S Williams; Amy C Sturm; Adam H Buchanan; Russell E Glasgow; Christa L Martin; Alanna Kulchak Rahm Journal: Front Genet Date: 2022-05-25 Impact factor: 4.772
Authors: Gerald F Watts; Samuel S Gidding; Pedro Mata; Jing Pang; David R Sullivan; Shizuya Yamashita; Frederick J Raal; Raul D Santos; Kausik K Ray Journal: Nat Rev Cardiol Date: 2020-01-23 Impact factor: 32.419
Authors: Gemme Campbell-Salome; Laney K Jones; Max F Masnick; Nephi A Walton; Catherine D Ahmed; Adam H Buchanan; Andrew Brangan; Edward D Esplin; David G Kann; Ilene G Ladd; Melissa A Kelly; Iris Kindt; H Lester Kirchner; Mary P McGowan; Megan N McMinn; Ana Morales; Kelly D Myers; Matthew T Oetjens; Alanna Kulchak Rahm; Tara J Schmidlen; Amanda Sheldon; Emilie Simmons; Moran Snir; Natasha T Strande; Nicole L Walters; Katherine Wilemon; Marc S Williams; Samuel S Gidding; Amy C Sturm Journal: Circ Genom Precis Med Date: 2021-01-22
Authors: Akl C Fahed; Minxian Wang; Aniruddh P Patel; Ezimamaka Ajufo; Dimitri J Maamari; Krishna G Aragam; Deanna G Brockman; Trish Vosburg; Patrick T Ellinor; Kenney Ng; Amit V Khera Journal: JAMA Netw Open Date: 2022-03-01
Authors: Adam H Buchanan; H Lester Kirchner; Marci L B Schwartz; Melissa A Kelly; Tara Schmidlen; Laney K Jones; Miranda L G Hallquist; Heather Rocha; Megan Betts; Rachel Schwiter; Loren Butry; Amanda L Lazzeri; Lauren R Frisbie; Alanna Kulchak Rahm; Jing Hao; Huntington F Willard; Christa L Martin; David H Ledbetter; Marc S Williams; Amy C Sturm Journal: Genet Med Date: 2020-06-30 Impact factor: 8.864