Patient Physical Characteristics and Primary Care Physician Decision Making in Preconception Genetic Screening

Abstract

Background: There has been growing emphasis on preconception care as a strategy to improve maternal and child health since the 1980s. Increasingly, development of genetic tests will require primary care providers to make decisions about preconception genetic screening. Limited research has been conducted on how primary care providers interpret patients’ characteristics and use constructs, such as ethnicity and race, to decide whom to offer preconception genetic screening. Objective: This report assessed the influence of patient characteristics on decisions to offer preconception genetic screening. Methods: A web-based survey of family physicians was conducted. Physicians reviewed a clinical vignette that was accompanied by a picture of either a black or a white patient. Physicians indicated whether they would offer genetic screening, and if yes, what tests they would offer and what factors influenced their decisions. Results: The majority (69.2%) of physicians reported that they would not offer genetic screening. Respondents who reviewed the vignette accompanied by a picture of the black patient were more likely to offer screening (35% vs. 26%, p = 0.0034) and rated race as more important to their decision to offer testing than those who viewed the picture of the white patient (76% vs. 49%, p < 0.0001). Conclusions: Our findings suggest that patient race is important to physicians when making decisions about preconception genetic testing and that decision making is influenced by patients’ physical characteristics. The reticence of physicians in this sample to offer preconception screening is an important finding for public health and clinical practice.

Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population

“…The panel is designed to target multiple ethnic populations by using broad disease panels and adding full gene sequencing, instead of being targeted to a specific ethnic group. In fact, some researchers have demonstrated that the use ethnic/racial labels provides little or no value when utilizing expanding carrier screening as opposed to panels targeted to specific ethnicities; thus, carrier screening of an expanded list of genetic conditions should be offered to all individuals regardless of their specific ethnic background …”

Expanded carrier screening in an infertile population: how often is clinical decision making affected?

“…Although much of genetic counseling and testing has been guided by ethnic background, this paradigm has been challenged by the everincreasing ethnic admixture of patient populations, leading some researches to regard conventional racial/ethnic labels as being of little value. 20,21 This in turn has lent support to abolishing ethnicity/race-based recommendations for screening and using more comprehensive programs for universal screening. The movement toward universal screening, coupled with the reduced cost of simultaneously screening for multiple diseases, has led to changes in both expanded screening strategies and newborn screening.…”

Knowledge and attitudes regarding expanded genetic carrier screening among women’s healthcare providers

“…In the case of Ashkenazi Jewish reporting, there are other factors to take into account as the concept of 'ethnicity' overlaps with religious, cultural, and historical considerations'' (9). Physicians also tend to rely on physical characteristics, such as skin color, to determine patient race/ethnicity, which can be highly inaccurate (12). These data suggest a need to replace ethnicity-based screening programs with more comprehensive programs that use expanded carrier screening to test for many disorders at the same time at a reduced cost compared with performing single gene tests.…”