A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women

A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women
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  ORIGINAL ARTICLE A pilot study of knowledge and interest of genetic counselingand testing for hereditary breast and ovarian cancersyndrome among Puerto Rican women Susan T. Vadaparampil  &  Gwendolyn P. Quinn  &  Julie Dutil  &  Marieva Puig  & Teri L. Malo  &  Jessica McIntyre  &  Rossybelle Perales  &  Euna M. August  & Zuheily Closser Received: 13 January 2011 /Accepted: 30 June 2011 /Published online: 12 July 2011 # Springer-Verlag 2011 Abstract  This study explored baseline levels of knowledgeand attitude toward genetic testing (GT) for hereditary breast and ovarian cancer among Puerto Rican women. A secondaryaim was to evaluate whether these factors differed betweenrespondents in Puerto Rico and Tampa. Puerto Rican womenwith a personal or family history of breast or ovarian cancer who live in Puerto Rico ( n =25) and Tampa ( n =20) wereinterviewed. Both groups were interested in obtaining GT;women living in Puerto Rico were more likely to report theywould get GT within 6 months (  p =0.005). The most commonly cited barrier was cost; the most commonly citedfacilitator was provider recommendation. There was nodifference in overall knowledge between Tampa (  M  =5.15,SD=1.63) and Puerto Rico (  M  =5.00, SD=1.87) participants(  p =0.78). Involving health care providers in recruitment andhighlighting that GT may be available at minimal or no cost in the USA and Puerto Rico may facilitate participation. Keywords  Genetic counseling.Genetic testing.Hereditarycancer .Hispanic.Puerto Rico Introduction The majority of hereditary breast cancers are associated withmutations in  BRCA1  and  BRCA2  (  BRCA1/2 ) tumor suppres-sor genes (Miki et al. 1994; Wooster et al. 1995). A recent  study of cancer risks in  BRCA1/2  mutation carriers in a largeUS-based sample estimated the cumulative breast cancer risk at age 70 years to be 46% in  BRCA1  carriers and 43% in  BRCA2  carriers. Cumulative ovarian cancer risk was 39% in  BRCA1  carriers and 22% in  BRCA2  carriers (Chen et al.2006). Additionally,  BRCA  mutation carriers have a 40  –  60%lifetime risk for a second primary breast cancer (Ford et al.1994; Metcalfe et al. 2004; Robson et al. 2005). Several recent studies have documented the presence of   BRCA  mutations in Hispanic women (Mullineaux et al.2003; Weitzel et al. 2005, 2007). A population-based study from the Northern California Cancer Registry reported that Hispanic women witha personal history of breast cancer havethe highest prevalence of   BRCA1  mutations compared toother racial/ethnic minority groups (i.e., African American,Asian American) in the USA (John et al. 2007). However, existing studies in the USA documenting  BRCA  mutation prevalence in Hispanic populations were based on participantsthat were predominantly of Mexican srcin (Mullineaux et al.2003; Weitzel et al. 2005, 2007). In the USA, the term  “ Hispanic ”  refers to a heteroge-neous group that shares a common language and somesociocultural markers. Although most Hispanic populationsare expected to be a mix of three ancestral populations(African, European, and Native American), the relative S. T. Vadaparampil ( * ) :  G. P. Quinn : T. L. Malo : J. McIntyre : R. Perales :  E. M. August  :  Z. Closser Health Outcomes and Behavior Program, Moffitt Cancer Center,12902 Magnolia Drive, MRC CANCONT,Tampa, FL 33612, USAe-mail: Susan.Vadaparampil@moffitt.orgS. T. Vadaparampil : G. P. QuinnDepartment of Oncologic Sciences, College of Medicine,University of South Florida,Tampa, FL, USAJ. DutilPonce School of Medicine,Ponce, Puerto RicoM. PuigUniversity of Puerto Rico,San Juan, Puerto RicoJ Community Genet (2011) 2:211  –  221DOI 10.1007/s12687-011-0058-9   proportion of each ancestral genetic background has beenshown to vary within and across Hispanic populations(Gonzalez Burchard et al. 2005). Previous studies using ancestry informative markers have shown that PuertoRicans carry more European and African ancestry, but significantly less Native American ancestry compared toMexicans (Salari et al. 2005). Given those differences, it is important to evaluate the prevalence and penetrance of   BRCA  mutations by subethnicity.  BRCA  founder mutations, a defined set of recurrent mutations in genetically similar populations with a commonancestry, have been identified in several populations,including in Hispanics from California (Weitzel et al.2005). The presence of founder mutations has allowed thedevelopment of simplified screening panels for initialmutation screening, thereby providing a cost-effectiveapproach to genetic testing (GT) for hereditary breast andovarian cancer (HBOC). In a retrospective study of 23female breast cancer patients undergoing GT for   BRCA mutations in the highest volume breast surgery practices inSan Juan, Puerto Rico, a total of 11 different deleteriousmutations were observed, including two mutations in  BRCA1  and nine mutations in  BRCA2 . Three recurrent mutations (  BRCA1  del exon1-2,  BRCA2  4150G>T, and  BRCA2  6027del4) accounted for over 70% of all the  BRCA mutations observed in this study population (J. Dutil, personal communication). However, these findings must  be confirmed in larger cohorts of Puerto Rican women. Assuch, researchers may recruit women from US cities withlarge Puerto Rican populations, such as Tampa, Florida; theisland of Puerto Rico; or both locations, to participate inthese studies.The cancer risks, available risk management strategiesincluding chemoprevention, surgery, and surveillance avail-able both in the USA and Puerto Rico, as well as the risksto family members make it clinically and ethicallyimperative that patients who may participate in thesestudies are aware of the implications of participating intesting. Thus, active patient recruitment and the provisionof pre- and post-test genetic counseling will likely benecessary in the context of a research protocol. Even instudies that conduct mutation testing on archived samples,follow-up notification and counseling for patients who test  positive may still be required. Therefore, informing patientsabout HBOC and GT is a critical component to an effectivestudy design.Given the greater availability of clinical  BRCA  testing,exposure to media coverage, and advertisements related toHBOC and  BRCA  testing in the USA (Jacobellis et al.2004; Mouchawar et al. 2005a , b) compared to Puerto Rico, there may be differences by location related to knowledgeand interest in GT that may impact recruitment andeducation efforts in these locations. The purposes of thecurrent pilot study were to explore baseline levels of knowledge, cultural factors, attitudes toward, and interest in GT and to evaluate whether these factors differed between Puerto Rican women who live in Puerto Ricoand Tampa, Florida. These data will be used to develop andrefine targeted recruitment approaches and counseling protocols for a future research study to establish the prevalence and penetrance of   BRCA  mutations in PuertoRican populations. Materials and methods Overall study context The geographic proximity and large Hispanic populationsin Puerto Rico and Florida have laid an important foundation for the development of an academic partnership between the Ponce School of Medicine (PSM) in PuertoRico and Moffitt Cancer Center (MCC) in Tampa. Throughan NCI-funded cooperative agreement, the PSM  –  MCCPartnership is a collaboration between a minority-servinginstitution (PSM) and an NCI-designated comprehensivecancer center (MCC) to address cancer-related healthdisparities among Hispanics. The Tampa-based team of the MCC had an existing study to identify differences inknowledge and attitudes toward HBOC and GT in a multiethnic sample of Hispanic women in Tampa (Quinnet al. 2011; Vadaparampil et al. 2010a , b). The Puerto Rico-  based team of the PSM is conducting a study aimed at identifying the prevalent   BRCA  mutations in Puerto Ricoand at evaluating available models of carrier risk assess-ment in this population. Based on these mutual interests, a sample of women were recruited from Puerto Rico andcompared with the subsample of Puerto Rican participantsfrom the multiethnic study of Hispanics in Tampa (Quinn et al. 2011; Vadaparampil et al. 2010a , b). The information collected in this project was intended to inform future population-based studies to better define the prevalence and penetrance of   BRCA  mutations specific to Puerto Rico.Design and settingEligible consenting individuals participated in a semi-structured in-depth qualitative interview followed by a series of structured quantitative survey items for descriptiveand exploratory purposes. Therefore, the sample size ( n =45) was based on estimates of the number needed for exploratory qualitative interviews (Guest et al. 2005; Kvale 1996), rather than statistical power calculations. The current study presents only the quantitative data. Participants wererecruited after the project received appropriate institutionalreview board approvals in both Tampa and Puerto Rico, and 212 J Community Genet (2011) 2:211  –  221  each participant provided written informed consent prior to participation. Data collection took place between May2006  –  September 2008 in Tampa participants and June andJuly of 2008 in Puerto Rico.Participant recruitment and data collectionThe overall recruitment methods in Puerto Rico and Tampa were similar and summarized below. Additional detailsabout the recruitment and results for the Puerto Rico-(August et al. 2011) and Tampa-based (Quinn et al. 2011; Vadaparampil et al. 2010a , b) samples can be found in additional reports. Eligible participants were Hispanicwomen who: (a) were between 21 and 65 years old, (b)resided in Puerto Rico or Tampa, (c) had a personaldiagnosis of breast cancer at   ≤ age 50 or ovarian cancer at any age or had at least one first-degree relative (FDR;mother, sister, daughter) diagnosed with breast cancer  before age 50 or at least one FDR diagnosed with ovariancancer at any age, (d) self-identified as Puerto Rican, and(e) had not previously had genetic counseling and/or GT for hereditary cancer. Participants were recruited by a team of  bilingual  –   bicultural trained research assistants usingcommunity-based outreach methods (e.g., attending cancer support groups) and distribution of a flyer with a brief description and purpose of the study, basic eligibilitycriteria, and a telephone number for prospective participantsto call with questions or to express interest in the study.Eligible, consenting individuals were interviewed in person.The interview and survey items required 45  –  90 min in totalto complete. At the end of the interview, participantsreceived a $25 honorarium.MeasuresOur primary outcome variable was interest in GT. This wasassessed by providing a brief description of GT:  “ Amongmen and women with a strong family history of certaincancers such as breast and ovarian cancer, genetic testinghas become available to identify those at higher risk of developing these specific cancers. ”  Participants were thenasked to rate how strongly they agreed with the statement that they would be likely to have GT in the next 6 months if it were available to them. Table 1 provides a brief summaryof several cultural, knowledge, and attitudinal factors of interest. We also evaluated the following sociodemographicand medical characteristics via a self-report questionnaire:age, marital status, have children, education, employment status, religion, income, personal history of breast cancer  before age 50, personal history of ovarian cancer at anyage, FDR (i.e., mother, sister, or daughter) with breast cancer before age 50, and FDR (i.e., mother, sister, or daughter) with ovarian cancer at any age.Data analysisData were analyzed using SAS® v. 9.1 software (SASInstitute 2003). All tests were two sided with a statisticalsignificance level set at   p ≤ 0.05. For the items related toattitudes toward GT, responses were collapsed into twocategories: (1) those who responded  “ strongly agree ”  or  “ agree, ”  and (2) those who responded  “ strongly disagree, ”“ disagree, ”  or   “ don't know. ”  The 11 knowledge items weresummed to create a composite knowledge score (range, 0  –  11). An independent samples  t   test or analysis of variancewas used to compare composite knowledge among theresponses given for the demographic and clinical character-istics. Because a goal of this study was to identify baselinelevels of knowledge about various aspects of HBOC and GTthat may be addressed either during recruitment or participant counseling (e.g., prevalence, risk factors, and inheritance), weconducted comparisons between locations (Puerto Rico andTampa) and knowledge (correct response or incorrect/don't know) using a chi-square test of homogeneity for each of theknowledge items. In instances where the cell count was  ≤ 5, a Fisher's exact test was conducted. We used a similar approachto evaluate attitude toward GT by location. An independent samples  t   test was conducted to compare compositeknowledge by location. No multiple comparison adjustmentswere considered due to the exploratory nature of this study. Results Demographic, clinical, and cultural characteristicsof the study populationOf the 45 individuals who participated in this study, 25were from Puerto Rico, and 20 were from Tampa. Asshown in Table 2, most participants were aged 31  –  50 (44%)or older than 50 (42%). Most participants were married(60%), had children (82%), employed full or part time(60%), and Catholic (67%). The largest proportion had a college education (40%) and income  ≤ $20,000 (38%)relative to other educational attainment and income levels.Additionally, most participants (80%) were born in PuertoRico. The only statistically significant difference in socio-demographic characteristics by participant location was that of income, such that participants from Puerto Rico reportedlower income (  p =0.01). Regarding personal cancer history,36% reported a breast cancer diagnosis before age 50, and9% reported a history of ovarian cancer. With respect toFDR cancer history, 31% reported having an FDR diagnosed with breast cancer before age 50, and 4% hadan FDR with a history of ovarian cancer.Regarding cultural characteristics, most participantswere not born in the mainland USA (80%). Respondents J Community Genet (2011) 2:211  –  221 213        T    a      b      l    e      1 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  —    t    h   e   c   u    l   t   u   r   a    l   v   a    l   u   e   t    h   a   t   r   e    f    l   e   c   t   s   a   n    i   n    d    i   v    i    d   u   a    l    '   s   s   t   r   o   n   g    i    d   e   n   t    i    f    i   c   a   t    i   o   n   a   n    d   a   t   t   a   c    h   m   e   n   t   w    i   t    h    h    i   s   o   r    h   e   r   n   u   c    l   e   a   r   a   n    d   e   x   t   e   n    d   e    d    f   a   m    i    l    i   e   s    1    8  -    I   t   e   m    F   a   m    i    l    i   s   m    S   c   a    l   e .    A    d    d   r   e   s   s   e   s    f   o   u   r    d    i   m   e   n   s    i   o   n   s   o    f    f   a   m    i    l    i   s   m ,    i   n   c    l   u    d    i   n   g    f   a   m    i    l    i   a    l   s   u   p   p   o   r   t ,    f   a   m    i    l    i   a    l    i   n   t   e   r   c   o   n   n   e   c   t   e    d   n   e   s   s ,    f   a   m    i    l    i   a    l    h   o   n   o   r ,   a   n    d   s   u    b    j   u   g   a   t    i   o   n   o    f   s   e    l    f    f   o   r    f   a   m    i    l   y    (    S   t   e    i    d   e    l   a   n    d    C   o   n   t   r   e   r   a   s    2    0    0    3    )    1    0  -    P   o    i   n   t   s   c   a    l   e   r   a   n   g    i   n   g    f   r   o   m    1    (   s   t   r   o   n   g    l   y    d    i   s   a   g   r   e   e    )   t   o    1    0    (   s   t   r   o   n   g    l   y   a   g   r   e   e    )    A   s   c   o   r   e    f   o   r   e   a   c    h   s   u    b   s   c   a    l   e ,   a   s   w   e    l    l   a   s   a   n   o   v   e   r   a    l    l    A    F    S   s   c   o   r   e ,   c   a   n    b   e   c   a    l   c   u    l   a   t   e    d    b   y   t    h   e   m   e   a   n    f   o   r   e   a   c    h   s   u    b   s   c   a    l   e   o   r   t    h   e   w    h   o    l   e   s   c   a    l   e    (    f   o   r   o   v   e   r   a    l    l   s   c   o   r   e    )    (    C   r   o   n    b   a   c    h    '   s   a    l   p    h   a   =    0 .    9    0    )    K   n   o   w    l   e    d   g   e    1    1  -    I   t   e   m    K   n   o   w    l   e    d   g   e    S   c   a    l   e .    M   e   a   s   u   r   e   s    f   o   u   r   a   s   p   e   c   t   s   o    f    H    B    O    C   g   e   n   e   t    i   c   s    k   n   o   w    l   e    d   g   e   :    (    1    )   p   r   e   v   a    l   e   n   c   e   o    f      B     R     C     A    g   e   n   e   m   u   t   a   t    i   o   n   s ,    (    2    )   p   a   t   t   e   r   n   s   o    f    i   n    h   e   r    i   t   a   n   c   e ,    (    3    )   c   a   n   c   e   r   r    i   s    k   s   a   s   s   o   c    i   a   t   e    d   w    i   t    h      B     R     C     A    m   u   t   a   t    i   o   n   s ,   a   n    d    (    4    )   r    i   s    k   m   a   n   a   g   e   m   e   n   t   o   p   t    i   o   n   s    f   o   r   w   o   m   e   n   w    i   t    h   a      B     R     C     A    m   u   t   a   t    i   o   n .    (    H   o   p   w   o   o    d   e   t   a    l .    2    0    0    1   ;    L   e   r   m   a   n   e   t   a    l .    1    9    9    7   a   ;    L   e   r   m   a   n   e   t   a    l .    1    9    9    6   ;    L   e   r   m   a   n   e   t   a    l .    1    9    9    7    b    )    Y   e   s ,   n   o ,    d   o   n    '   t    k   n   o   w    A    l    l    i   t   e   m   s   w   e   r   e   s   c   o   r   e    d   a   s   a    1    i    f   t    h   e   r   e   s   p   o   n    d   e   n   t   p   r   o   v    i    d   e    d   t    h   e   c   o   r   r   e   c   t   a   n   s   w   e   r   a   n    d   a    0    i    f   t    h   e   y   g   a   v   e   a   n    i   n   c   o   r   r   e   c   t   o   r     “     d   o   n    '   t    k   n   o   w     ”    r   e   s   p   o   n   s   e .    T    h    i   s   a    l    l   o   w   e    d    f   o   r   t    h   e   c   a    l   c   u    l   a   t    i   o   n   o    f   a   n   o   v   e   r   a    l    l    k   n   o   w    l   e    d   g   e   s   c   o   r   e   t    h   a   t   c   o   u    l    d   r   a   n   g   e    f   r   o   m    0   t   o    1    1    A   t   t    i   t   u    d   e   t   o   w   a   r    d   s    G    T    8  -    I   t   e   m   s   m   e   a   s   u   r    i   n   g    G    T    b   a   r   r    i   e   r   s   a   n    d    f   a   c    i    l    i   t   a   t   o   r   s .    (    P   e   t   e   r   s   e   t   a    l .    2    0    0    6   ;    V   a    d   a   p   a   r   a   m   p    i    l   e   t   a    l .    2    0    0    7    )    5  -    P   o    i   n   t   s   c   a    l   e   r   a   n   g    i   n   g    f   r   o   m    1    (   s   t   r   o   n   g    l   y   a   g   r   e   e    )   t   o    5    (   s   t   r   o   n   g    l   y    d    i   s   a   g   r   e   e    )    E   a   c    h    i   t   e   m   c   o   n   s    i    d   e   r   e    d    i   n    d    i   v    i    d   u   a    l    l   y 214 J Community Genet (2011) 2:211  –  221  Table 2  Sociodemographic, medical, and cultural characteristics by location ( n =45)Total ( n =45)  n  (%) Tampa ( n =20)  n  (%) a  Puerto Rico ( n =25)  n  (%)  p  value  b Sociodemographic characteristicsAge 0.50 ≤ 30 6 (13.33) 4 (20.00) 2 (8.00)31  –  50 20 (44.44) 9 (45.00) 11 (44.00)>50 19 (42.22) 7 (35.00) 12 (48.00)Marital status 0.54Married/Living with partner 27 (60.00) 13 (65.00) 14 (56.00)Single/Separated/Divorced/Widowed 18 (40.00) 7 (35.00) 11 (44.00)Have children 0.43Yes 37 (82.22) 18 (90.00) 19 (76.00) No 7 (15.56) 2 (10.00) 5 (20.00)Missing 1 (2.22) 0 (0.00) 1 (4.00)Education 0.83<High school 5 (11.11) 3 (15.00) 2 (8.00)High school 11 (24.44) 4 (20.00) 7 (28.00)Some college 10 (22.22) 5 (25.00) 5 (20.00)College 18 (40.00) 8 (40.00) 10 (40.00)Missing 1 (2.22) 0 (0.00) 1 (4.00)Employment status 0.22Full or part time 27 (60.00) 10 (50.00) 17 (68.00)Unemployed/Seasonal/Homemaker 18 (40.00) 10 (50.00) 8 (32.00)Religion 0.78Catholic 30 (66.67) 12 (60.00) 18 (72.00)Christian 3 (6.67) 2 (10.00) 1 (4.00)Other 11 (24.44) 5 (25.00) 6 (24.00)Missing 1 (2.22) 1 (5.00) 0 (0.00)Income 0.01* ≤ $20,000 17 (37.78) 4 (20.00) 13 (52.00)$20,001  –  $40,000 14 (31.11) 5 (25.00) 9 (36.00)>$40,000 11 (24.44) 8 (40.00) 3 (12.00)Prefer not to answer 3 (6.67) 3 (15.00) 0 (0.00)Medical characteristicsPersonal history of breast cancer <age 50 0.05Yes 16 (35.56) 4 (20.00) 12 (48.00) No 29 (64.44) 16 (80.00) 13 (52.00)Personal history of ovarian cancer 0.61Yes 4 (8.89) 1 (5.00) 3 (12.00) No 39 (86.67) 19 (95.00) 20 (80.00)Missing 2 (4.44) 0 (0.00) 2 (8.00)First-degree relative had breast cancer <age 50 0.67Yes 14 (31.11) 6 (30.00) 8 (32.00) No 24 (53.33) 12 (60.00) 12 (48.00)Missing 7 (15.56) 2 (10.00) 5 (20.00)First-degree relative had ovarian cancer 0.23Yes 2 (4.44) 0 (0.00) 2 (8.00) No 31 (68.89) 17 (85.00) 14 (56.00)Missing 12 (26.67) 3 (15.00) 9 (36.00)Cultural characteristicsBorn in mainland USA 0.06Yes 9 (20.00) 7 (35.00) 2 (8.00) No 36 (80.00) 13 (65.00) 23 (92.00)J Community Genet (2011) 2:211  –  221 215
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