Table 1 Characteristics of studies with the theme ‘genetic knowledge/literacy’

Qualitative

Press (1993) [23]

Patient interview (n = 20); provider interview (n = not disclosed); observation (n = 20) [AFP]

Not assessed

Mexico

(1) Seventy five percent of the participants said they read and understood the written AFP information, but based on knowledge questions very little information was retained

Browner (1995) [25]

Patient interview (n = 20); observation (n = 35) [AFP]

Not assessed

Mexico

[Marin Acculturation Scale] (1) Participants retained very little information on PGT after intake appointments with providers and supplemental educational pamphlets

Freda (1998) [20]

Patient interview (n = 31) [AFP]

Not assessed

Not assessed

(1) After viewing an informational video on AFP, 38% of the participants did not know the purpose of AFP, 72% of the participants believed a negative AFP test meant a healthy fetus, many knowledge questions had an 80% incorrect answer rate, and 45% of participants understood the recommended medical follow up for a positive test

Griffiths (2008) [22]

Patient interview(n = 33) [AFP, Amnio]

Foreign born and US born

Mexico

[Marin Short Acculturation Scale] (1) One third of participants thought there had to be a reason for birth defects and 1/3 of participants thought birth defects could be random. (2) One third of participants thought AFP results were diagnostic and were unaware a positive test result would result in more screenings. (3) Most felt that a negative AFP result guaranteed a healthy baby. (4) Participants reported they would decline amniocentesis due to risks associated with the procedure

Markens (2010) [38]

Patient interview (n = 147) [AFP, Amnio]

Foreign born and US born

Mexico

(1) Participants who declined amniocentesis were more skeptical of scientific knowledge and mistrusted medical institutions than participants who accepted amniocentesis

Thompson (2015) [33]

Patient interview (n = 25) [General PGT]

Foreign born

El Salvador, Honduras, Mexico

(1) Participants declined testing due to risks associated with the procedures

Floyd (2016) [21]

Patient interview (n = 10) [cfDNA]

Not assessed

Not assessed

(1) After genetic counseling, participants had difficulty distinguishing the different PGT options. (2) Spanish-speaking participants chose to undergo cfDNA because of their doctor’s recommendation

Garza (2019) [27]

Patient interview (n = 20) [General PGT]

Foreign born

Cuba, El Salvador, Guatemala, Honduras, Mexico

(1) After genetic counseling sessions with a Spanish-speaking genetic counselor, participants were able to recall genetic information, including vocabulary terms. (2) Participants consulted close family/friends to help support them through making the decision of whether to undergo PGT. (3) Participants were receptive to the medical information and trusted their healthcare providers. (4) Participants chose to undergo NIPT rather than amniocentesis due to risks associated with amniocentesis

Page (2021) [17]

Patient interview (n = 10) [General PGT]

US born

Not assessed

[REAL-G Genetic Literacy Scale] (1) Ninety percent of participants first learned of PGT through their healthcare provider and 70% had no previous knowledge of genetic abnormality terms or PGT options

Quantitative

Browner (1996) [18]

Patient interview (n = 56) [AFP]

Not assessed

Mexico

(1) No difference in AFP knowledge scores for participants who accepted or declined PGT. (2) Participants who received video education on AFP, in lieu of written information, retained more AFP knowledge 3 months later. (3) Education had the strongest effect on AFP knowledge and Mexican–American and European-American participants had no statistically significant difference in AFP knowledge scores. (4) Mexican immigrant participants had significantly lower AFP knowledge scores than Mexican–American and European-American participants

Learman (2003) [40]

Patient interview (n = 220) [General PGT]

Foreign born & US born

Not assessed

(1) Medical providers had a larger influence on participants' PGT decisions than friends or religious leaders had

Singer (2004) [39]

Men/women of childbearing age interview (n = 428) [General PGT]

Not assessed

Not assessed

(1) Latino and Black participants had a higher preference for PGT than White participants. (2) Latino participants were similar to White participants in their knowledge of PGT, interest in the topic, and confidence in medical institutions. (3) One third (32.3%) of the Latino participants who did not read scientific news sited their doctor as the most important source of knowledge

Case (2007) [36]

Women of childbearing age interview (n = 284) [General PGT]

Not assessed

Not assessed

(1) Seventy eight percent of participants stated they would undergo PGT with Black and Latina participants more likely to want PGT than their White participants. (2) Ninety five percent of participants wanted to undergo testing to receive treatment in utero

Hawk (2011) [19]

Patient interview (n = 48) [General PGT]

Foreign born & US born

Not assessed

(1) Knowledge of genetic conditions did not vary in participants who chose to undergo PGT versus those who chose not to undergo testing. (2) After prenatal genetic counseling sessions, knowledge of abnormalities was deficient for 50% of participants. (3) There were no differences in English and Spanish-speaking participants for reasons to undergo (or not to undergo) PGT. Reasons to undergo PGT were that their doctor recommended it and to be reassured their pregnancy was normal. Reasons not to pursue PGT was that the participant would never consider terminating the pregnancy

Kupperman (2014) [30]

Patient interview (n = 322) [General PGT]

Not assessed

Not assessed

[Decisional Conflict Scale & Decision Regret Scale] (1) Differences in prenatal knowledge and decisional regret were examined between participants who were randomized to an intervention group, received prenatal genetic education and decisional support, and participants who received care as usual. Participants in the intervention group had higher knowledge scores and were more likely not to undergo PGT. There were no differences in decisional regret between participants in the intervention and control groups

Bryant (2015) [9]

Patient interview (n = 322) [General PGT]

Not assessed

Not assessed

[Rapid Estimate of Adult Literacy in Medicine-Revised] (1) Utilized a validated measurement tool to assess for genetic literacy

Molina (2019) [10]

Patient interview (n = 292) [General PGT]

Not assessed

Not assessed

[REALM-R & Lipkus Expanded Numeracy Scale] (1) Study used a validated scale to assess for genetic knowledge. (2) Latina participants (both Spanish and English speaking) had lower health numeracy than White participants

Mixed methods

Mittman (1998) [26]

Patient interview (n = 826); observation (n = not disclosed) [Amnio; CVS]

Foreign born & US born

Not assessed

(1) Eighty one percent of participants had an increase in genetic knowledge after a genetic counseling session facilitated by a genetic counselor and cultural broker. (2) There was no correlation between genetic knowledge and acceptance or refusal of amniocentesis

Penchaszadeh (1998) [35]

Patient interview (n = 100) [Amnio]

Not assessed

Not assessed

(1) Fear of risks and pain from the procedure were common reasons participants declined amniocentesis. (2) Fifty three percent of participants believed a normal amniocentesis test result indicated the fetus was healthy in all domains. (3) Thirty one percent of participants' PGT decisions were influenced by their provider

Press (1998) [28]

Patient interview (n = 75); chart review (n = 298) [AFP]

Foreign born & US born

Mexico

[Marin Short Acculturation Scale] (1) Spanish speaking Latina participants were almost 2 × as likely (1.94 odds ratio) to refuse AFP testing than pregnant participants (of varying backgrounds) in the sample. (2) Accepting or refusing genetic testing was not related to AFP knowledge. (3) Spanish speaking Latina participants refused AFP testing out of fear it would lead to amniocentesis; amniocentesis was feared due to the procedure itself and associated risks

Browner

(1999b) [32]

Patient interview (n = 147); chart review (n = 379) [Amnio]

Foreign born and US born

Mexico

(1) Participants accepted amniocentesis to maintain a good relationship with their medical team. (2) The participants’ understanding of the risks of the procedure, fear of birth defects, and rapport with the medical team were influential factors of whether to undergo amniocentesis. (3) Fear of the procedure was a reason participants refused amniocentesis. (4) Participants who were skeptical of medicine and their doctor’s recommendations were more likely to decline amniocentesis

Browner (2000b) [37]

Patient interview (n = 147) [AFP, Amnio]

Foreign born and US born

Mexico

[Marin Short Acculturation Scale] (1) Participants who were skeptical of medicine and science were more likely to decline PGT than participants with positive attitudes towards science. (2) Participants who trusted their doctor were more likely to accept PGT than participants who did not value their doctor’s recommendations

Browner (2000a) [34]

Patient interview (n = 43) [Amnio]

Foreign born

Mexico

[Marin Short Acculturation Scale] (1) Seventy one percent of the participants who refused and 46% of participants who accepted amniocentesis thought the procedure was extremely risky for the fetus. (2) Participants had several misconceptions about the amniocentesis procedure. (3) Participants agreed to undergo amniocentesis in order to be viewed positively by their providers

Browner (2003) [41]

Patient interview (n = 120); observations (n = 77) [Amnio]

Foreign born and US born

Mexico

(1) Genetic counselors were not a trusted source of knowledge for participants with limited educational background

Hunt (2005) [24]

Patient interview (n = 40); provider interview (n = 50); observation (n = 101) [AFP, Amnio]

Foreign born and US born

Mexico

(1) Seventy eight percent of participants stated they took into consideration their doctor’s recommendation when deciding whether to undergo amniocentesis. (2) There were statistically significant differences in the amount of information provided by certified genetic counselors and non-certified genetic counselors. Participants, however, had no statistically significant difference in recollection of information

Farrell (2015) [29]

Patient interview (n = 63) [NIPT]

Foreign born and US born

Not assessed

(1) Thirty five (34.9%) percent of participants underwent NIPT; language and education were predictive factors. (2) Almost half (47.6%) of participants said they made their testing decisions based on God's will. (3) Participants did not understand the limitations of testing. (4) Knowledge of testing was lower for participants who declined the PGT than for participants who accepted testing