"I am pregnant and my husband has diabetes. Is there a risk for my child?" A qualitative study of questions asked by email about the role of genetic susceptibility to diabetes

The National Genetic Research and Information Center in the Netherlands provides online information about more than 600 inheritable disorders, including all diabetes subtypes http://​www.​erfelijkheid.​nl/​zena/​diabe.​php. Web statistics indicate that the general number of website visitors is reaching 2,2 million per year. Almost 9,000 visitors searched specifically for information on 'diabetes and inheritance' in 2009.

For each diabetes subtype, information about the pathophysiology, diagnosis, treatment, prevalence, and genetics is provided. Multifactorial-, monogenetic-, or mitochondrial inheritance is explained, and risk estimations are given for first- and second degree relatives of T1DM, T2DM, and MIDD patients. Links to other informative websites are given. Apart from reading the information on the website, visitors are offered the possibility to submit a question per e-mail. Three staff members, who are all educated in genetics and inheritance, answer the questions within three days. This helpdesk team refers to professionals in the field (e.g. clinical genetic centers, diabetes specialists or general practitioners) in case they are unable to answer the question. When posting a question on the website, visitors are invited to disclose information (optional) about their gender, age, and whether their interest is personal or professional, for the purpose of evaluation.

It is not possible to ask informed consent of participants in secondary analyses, and we therefore excluded all questioners (n = 11) that opted not to provide any personal information. In addition, two exclusion criteria were applied. Fifty-eight e-mails did not relate to genetics and inheritance, but concerned diabetes (treatment) in general. Secondly, in this study we were primarily interested in (additional) information needs of 'private' health consumers, aiming at tailoring (online) information about diabetes and genetics. Thirty-eight questions were asked by students and health care professionals, and therefore were excluded from the sample. From the 158 e-mails left, fourteen contained two questions. In total, 172 queries were included in this study.

In this study, we used secondary content analysis. The advantage associated with secondary data analysis is its convenience and cost-effectiveness [23]. We adopted an iterative and inductive approach which is argued to be applicable in computer-mediated convenience samples [24]. Two researchers (SvE and research assistant) double-coded all email questions using qualitative data indexing software (Kwalitan 5.0 [25]). Emerging themes and tendencies were identified and categorised; ambiguities were resolved and categories were reduced to major themes in discussion with two senior researchers and re-reading the emails [26].

After qualitative classification, data were quantified in order to develop participants' profile (by age, gender and family status) and observe the distribution of coding labels within the emerged categories ('type of diabetes inquired', 'topics inquired', 'expressed worry', and 'type of information requested'). Illustrative quotes are presented as summaries of the questions' quintessence, paraphrasing the original Dutch formulation as much as possible (however, sometimes with minor alteration to respect subjects' confidentiality). Participants' identification number (#), gender, age in years, and family status are included after each quote to help the reader identify the background of its source.

As shown in Table 1, it appeared that most people asking questions via the website were relatively young; sixty-eight persons (54.8%) were ≤ 30 years. Mainly women inquired the role of inheritance in diabetes (n = 131; 82.7%). Nearly half of the questions were asked by diabetes patients (n = 77; 48.9%); almost one third by relatives (n = 47; 29.6%) and the remaining by partners of diabetes patients (n = 34; 21.5%).

Most questions concerned T1DM (n = 59; 37.3%). Relatively few questions referred to T2DM (n = 15; 9.5%) and GDM (n = 13; 8.2%). Thirteen participants inquired about T1DM as well as T2DM (8.2%), since they seemed confused about the presence of both diabetes subtypes in their family. A T1DM patient for example asked: "I am pregnant. Both my parents have type 2 diabetes. Is my baby at increased risk for type 1 or type 2 diabetes?" [#3129 Female, 27y, Patient]. Other types of diabetes, like MODY, MIDD or LADA, were rarely inquired (n = 8; 5.0%).

Notably, in forty-four questions (27.9%) the type of diabetes was not specified, for example: "Has diabetes in men consequences for offspring?" [#2097 Female, 31y, Partner], or "I have diabetes. My partner's father and grandfather also have diabetes. We are thinking about having children. Is diabetes inheritable and if yes, what is the diabetes risk of our children?" [#2088 Female, 18y, Patient]. Additionally, slightly more than half of the questions (n = 86; 54.6%) did not contain well-defined family information, for instance: "Five persons in my family have diabetes. Does this have to do with inheritance?" [#3104 Female, 65y, Relative].

Table 2 displays the topics of interest. Eighty-four participants (48.8%) inquired about genetics and inheritance in relation to reproduction. More than half of these questions specifically referred to a (future) pregnancy. Evidently, the period of pregnancy brings up worries about consequences for the questioners' health as well as the health of the foetus, for instance: "I am 13 weeks pregnant and have type 1 diabetes. My blood glucose levels are very unstable. I am worried about my health and possible consequences for my baby." [#5012 Female, 30y, Patient], or in case of GDM: "I have gestational diabetes. What are the risks for the baby during pregnancy and what is the risk for the child later in life?" [#0014 Female, 26y, Patient]. Even regarding to late onset T2DM people seem to be worried: "I am six weeks pregnant. My husband is a type 2 diabetes patient. Is there a risk for my child?" [#1048 Female, 31y, Partner]. The preconception phase was mostly inquired by T1DM patients: "I have so many questions. I have type 1 diabetes and want to get pregnant. Is that possible? What are the risks for me, the pregnancy and the baby?" [#3131 Female, 36y, Patient]. Besides pregnancy, 'family planning' was often explicitly mentioned as a reason for asking the question. A few questioners were in serious doubt about having offspring, because of the (sometimes high) prevalence of diabetes in their family. As one patient stated: "Three persons in my family, including myself, have type 1 diabetes. A fourth family member is diagnosed with LADA. What is the chance my future children will develop diabetes? I don't know whether I want to have children, if they would be at really high risk." [#5055 Female, 24y, Patient].

More than one third of the e-mails (n = 64; 37.2%) concerned the genetics of diabetes 'in general'. Most questioners inquired about the role of inheritance in their family, for instance: "Two of my kids have type 1 diabetes. Both my parents have type 2 diabetes. Since type 2 diabetes is not inheritable, why do my children have type 1 diabetes?" [#1025 Female, 28y, Relative]. Some people are specifically interested in genes: "I have type 1 diabetes, celiac disease and epilepsy. Which gene defects are causing these diseases? Are these genes related?" [#1018 Male, 30y, Patient].

A small amount of e-mails (n = 24; 14.0%) concerned queries about (new) technologies like genetic testing, genetic therapy and progresses in the scientific field, for example: "Which medical center in the Netherlands performs genetic tests for MODY? Which qualifications for testing are required?" [#3105 Male, 35y, Patient]. A questioner with high expectations asked: "I have type 2 diabetes. When will gene therapy be available?" [#1039 Male, 28y, Patient].

It appeared that almost half of the queries received (n = 78; 45.3%) were related to worries about (future) offspring's diabetes risk. One third (n = 58; 33.7%) referred to the questioner's own diabetes related health or diabetes risk. Noteworthy, some people inquiring offspring's diabetes risk seem not worried or even aware of their own possibly increased diabetes risk, for instance: "My partner has type 1 diabetes. My father, and possibly my mother-in-law, had type 2 diabetes. What is the chance my child will develop type 1 diabetes?" [#4027 Female, 36y, Partner]. Or: "My uncle has diabetes. Is it possible this disease is inheritable for my future child?" [#1040 Female, 25y, Relative]. Not all questioners did explicitly express worry in their e-mail.

Table 2 summarises the type of information that website visitors requested. Most e-mail questions (n = 69; 40.1%) pertained a request for (personalised) risk information. On the website, risk estimations for first- and second degree relatives of T1DM, T2DM, and MIDD patients are described. In theory, questions like: "My partner has type 1 diabetes. What is the risk my future child will develop diabetes?" [#0106 Female, 29y, Partner] could be answered by reading this information. Evidently, in families with complex family history (different types of diabetes and/or diabetes running through several generations), the provided risk information might be difficult to apply. For instance, "A relative of mine has type 1 diabetes. In my wife's family type 1 as well as type 2 diabetes is prevalent. Is it possible to estimate whether my children are at increased risk for type 1 or type 2 diabetes?" [#3154 Male, 28y, Relative].

In almost one quarter of the e-mails (n = 42; 24.4%), the questioner requested an explanation, clarification or verification. For example, people inquired about the (genetic) co-occurrence of different types of diabetes in their family: "Are gestational diabetes and diabetes insipidus genetically related?" [#3134 Female, 46y, Relative]. Some wanted to verify or validate information or ideas: "I have type 1 diabetes. My father, my aunt and grandmother also have type 1 diabetes. I was told it's a coincidence. Is that true?" [#2079 Female, 25y, Patient], or "I have type 1 diabetes. Several family members have type 2 diabetes. Is it possible I inherited my diabetes?" [#2066 Female, 16y, Patient].

Thirty-eight participants (22.1%) expressed a wish to obtain preventive and/or therapeutic advice, either with regard to one's own health or the diabetes related health of offspring. For example: "We are thinking about a pregnancy. My partner has type 1 diabetes. In my family, some relatives have type 2 diabetes. What precautionary measures do we have to take to get a healthy baby?" [#1016 Female, 29y, Partner]. Preventive advice to reduce own T2DM risk was hardly sought. As regards, only three questioners referred to the multifactorial aetiology of T2DM: "My father has type 2 diabetes. How can we prevent developing diabetes?" [#0012 Female, 40y, Relative].

Finally, in some e-mails (n = 23; 13.4%) people included a clear request for specific information, like a MODY patient stated: "I am looking for information. My son and I are diagnosed with MODY, caused by a heterozygote mutation." [#3138 Female, 30y, Patient]. Or a patient was interested in scientific progresses: "How far are developments in the field of stem cell transplantation or other possible solutions to cure type 1 diabetes?" [#5016 Male, 41y, Patient].

To get a clearer view of questioners' information needs, we combined the topics they inquired about with the type of information they requested. It appeared that questioners inquiring about genetics in relation to reproduction most of the time were in need of risk information (n = 40; 47.7%) or advice (n = 30; 35.8%). The majority of queries concerning genetics and inheritance of diabetes in general also contained a need for risk information (n = 28; 43.8%) and in almost an equal number of cases a request for explanation or verification (n = 26; 40.6%). People submitting an e-mail about (new) technologies in the genetic field mostly demanded specified information (n = 14; 58.3%) (see Table 3).

A strength of this study is that data were collected from a registry of people's search for information in a 'natural' setting as opposed to exploring beliefs and knowledge on genetics in a (high-risk) clinical setting or in general public using questionnaires [40]. We were able to explore questions based on individual perceptions and interests, described in people's own words.

However by utilising secondary data analysis, we were unable to further expand our understanding by posing additional questions for example related to the amount of visitors actually reading the information provided on the website, the degree of understanding, and perceived utility of the expert answers received [23]. On the other hand, it appeared that the available 172 queries generated a study sample that was rich enough to emerge categories reflecting interesting themes and tendencies to describe.

We are aware that people submitting e-mail questions via the Internet may represent a selective group (in our study: young, predominantly female Internet users) and we cannot exclude selection bias. Also, the study's generalizability is limited due to its reliance on questions gathered by only one web based supplier of genetic information. It would be interesting to expand our study using other interactive websites and other countries to provide insight in other settings and cultures.

In earlier research, it appeared that physicians are the preferred first source of health information for 50% of Americans. Yet only 11% report their physician as the first line of inquiry, as compared with 49% who report that the Internet is their first source [41]. Consequently, the delivery of genetic information on diabetes is important in clinical practice as well as in (web based) public health initiatives.

Diabetes professionals might adjust their information after discussing clients' information needs, family situation and risk perception. It is important to notice that some recipients will be in need of personalised risk information, while others prefer clarifying information or advice. Public health initiatives, including web based strategies, can add to the health education of people about genetic backgrounds of common diseases, and provide general risk information as well as preventive messages. Also, information on scientific progress and new technologies in the field of genetics may fulfil the need of a small, but highly interested public.

In addition of public information, individuals may wish to receive personalised (risk) information or advice. Utilising an email approach often requires more detailed information from the person than currently provided. As an alternative, clinicians and public health providers could compile a list of frequently asked questions (and answers) about diabetes and inheritance and incorporate it into (web based) diabetes family education.