Shock, Adjust, Decide: Reproductive Decision Making in Cystic Fibrosis (CF) Carrier Couples—A Qualitative Study

Myring, Jessica; Beckett, William S.; Jassi, Rupinder; Roberts, Theresa L.; Sayers, Richard; Scotcher, Diana; McAllister, Marion

doi:10.1007/s10897-011-9363-z

Cited by 32 publications

(30 citation statements)

References 33 publications

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“…As reported by carriers in the current study and other studies, the initial phone call disclosing the test result elicits a level Letter from genetic service to family members (approach G) Useful 2 (10) Not useful 19 90of shock and is often recalled as a particularly stressful time (Myring et al 2011). Shock and anxiety may limit an individual's absorption and recollection of information discussed (McClaren et al 2013).…”

Section: Discussionmentioning

confidence: 55%

Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening

et al. 2017

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Population carrier screening for cystic fibrosis (CF) enables individuals with no known family history of the condition to ascertain their risk of having a child with CF. When an individual is identified as a carrier of CF, a life-shortening condition, they are encouraged to inform their relatives who are at increased risk of being a carrier. Research suggests that the uptake of CF carrier testing amongst relatives of carriers or people with CF is low. This study aimed to explore approaches to facilitate the process of family communication of genetic information after an individual is identified as a carrier of CF through population screening. Five key informants were interviewed to inform the development of a telephone survey which was administered to 21 individuals identified as carriers of CF through population carrier screening at Victorian Clinical Genetics Services. This study suggests that providing carriers with additional information and follow-up support would be appreciated by carriers and could result in more accurate information being disseminated more widely within families, which could lead to more at-risk relatives accessing testing. Suggested strategies to enhance current practice include mailing a fact sheet to carriers and a follow-up telephone call provided by a genetic counsellor to carriers to offer further support in communicating this information to their relatives.

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Section: Discussionmentioning

confidence: 55%

Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening

et al. 2017

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“…This finding also relates to other reproductive decision-making in other genetic contexts. For example, Myring and her colleagues (Myring et al 2011) found Cystic Fibrosis (CF) carrier couples who already had a child or pregnancy affected with CF were more likely to have another pregnancy, while CF carrier couples who had a healthy child first were less likely to consider another pregnancy because of their concern for the child's risk. Future research may consider comparing and contrasting several life-threatening genetic conditions about reproductive concerns.…”

Section: Discussionmentioning

confidence: 99%

“…In general, women have a variety of reproductive options including personal pregnancy, surrogacy, in-vitro fertilization, and adoption. Researchers have examined family planning and reproductive decision-making in a variety of different health contexts such as Huntington's Disease (Downing 2005;Klitzman et al 2007), Cystic Fibrosis (Myring et al 2011), Multiple Sclerosis (Alwan et al 2012), HIV/AIDS (Matthews et al 2013), and cancer (Chung et al 2013;Clayman et al 2013). Yet most of this scholarship focuses on reproductive decision-making process rather than the negotiation of personal health risk and reproductive concerns.…”

Section: Family Planning and Reproductive Decision-makingmentioning

confidence: 99%

“It was an Emotional Baby”: Previvors’ Family Planning Decision‐Making Styles about Hereditary Breast and Ovarian Cancer Risk

Dean

Rauscher

2017

Journal of Genetic Counseling

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Women who test positive for a BRCA genetic mutation are at an increased risk for developing hereditary breast and ovarian cancer and have a 50% chance of passing on their genetic mutation to their children. The purpose of this study was to investigate how women who test positive for a BRCA mutation but have not been diagnosed with cancer make decisions regarding family planning. Analysis of interviews with 20 women revealed they engage in logical and emotional decision-making styles. Although women want to be logical to reduce their hereditary cancer risk, emotions often complicate their decision-making. Women experience fear and worry about a future cancer diagnosis, yet also desire to create a family, particularly having children through natural conception. That is, women negotiate having preventative surgeries in a logical doctor-recommended timeframe but also organize those decisions around emotional desires of motherhood. Overall, this study demonstrates the complex decisions women who test positive for a BRCA mutation must make in regards to genetic testing timing, family planning, and overall quality of life.

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“…A recent study describes reproductive decision making for CF carrier couples with and without an affected child; once relatives learn that they are carriers and if their partner is also a carrier, there are significant impacts both emotionally and practically for future (and existing) pregnancies. 13 Aside from reproductive planning, another reason for carrier testing is to clarify carrier status to pass information on to other relatives. This may particularly apply to grandparents of a child diagnosed with CF through NBS, and to great aunts/uncles who are in a similar stage of life to grandparents.…”

Section: Genetics In Medicinementioning

confidence: 99%

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

McClaren

Aitken

Massie

et al. 2013

Genetics in Medicine

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Original research article INTRODUCTIONNewborn screening (NBS) for cystic fibrosis (CF) has increasingly been adopted by many countries worldwide, including Australia and New Zealand (since 1981), the United Kingdom (2007), a number of other countries and regions in Europe, and the United States. [1][2][3] The birth prevalence of CF is ~1 in 3,500 for northern European populations, 4 with a carrier frequency of 1 in 25, making it the most common severe recessive condition in children. In the state of Victoria, Australia, CF has been part of NBS since 1989, using immunoreactive trypsinogen as the screening analyte, and from 1991, using CF transmembrane conductance regulator gene mutation analysis for elevated immunoreactive trypsinogen results. 5A supplement edition of Genetics in Medicine (December 2010) highlighted the need for establishing systems for shortand longer-term follow-up of children who receive positive screening results from NBS. Long-term follow-up of children diagnosed with CF is generally achievable due to their ongoing treatment and management. 6 One important area that has been poorly studied is the impact of family cascade testing following a child's diagnosis of CF through NBS. "Cascade testing" is the term often used to describe genetic testing of relatives of a person diagnosed with a genetic condition or identified as a genetic carrier. The "cascade" refers to the process of testing an individual for the familial mutation(s) and then, in the event of a positive result, descendants are tested; descendants of an individual who receives a negative result are not tested. The diagnosis of a child with CF inherently means relatives are at increased risk of being CF carriers (e.g., aunts and uncles of a child with CF have a 50% risk). Carrier relatives may have their partners tested. When both partners are identified to be carriers, knowledge of carrier status provides relatives with information that may be used to make reproductive decisions, which might include having no (more) children, prenatal diagnosis, preimplantation genetic diagnosis, using donor gametes, and adoption.We have previously investigated cascade carrier testing of relatives of children diagnosed with CF through NBS in Victoria, Australia. Parents are counseled regarding the familial implications at the time of their child's diagnosis and are provided with a letter to give to relatives to assist them with communicating the genetic information.7 Even though carrier testing was free of charge to relatives who wished to receive testing, only 11.8% of relatives accessed carrier testing. 8 The aim of this study was to explore the reasons why relatives access or do not access carrier testing following a child's diagnosis of CF by NBS.Purpose: Newborn screening for cystic fibrosis is increasingly available, but cascade testing following the diagnosis in a child has received little attention. We previously reported low levels of cascade testing over time, and this study investigated motivators as well as barriers to testing. Methods:P...

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Shock, Adjust, Decide: Reproductive Decision Making in Cystic Fibrosis (CF) Carrier Couples—A Qualitative Study

Cited by 32 publications

References 33 publications

Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening

Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening

“It was an Emotional Baby”: Previvors’ Family Planning Decision‐Making Styles about Hereditary Breast and Ovarian Cancer Risk

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

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