Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders

Abstract

Screening and diagnostic testing for single-gene disorders and common syndromes in the pediatric setting frequently generate data that are challenging to interpret, and the ability to diagnose genetic conditions has outpaced the development of successful treatments or cures. Genetic testing is now integrated purposefully into a variety of primary and specialty care clinics, creating an increased requirement for genetic literacy among providers and patients, as well as a growing need to incorporate genetic counseling services into mainstream clinical practice. The practice of pediatric genetic counseling encompasses a unique combination of skills and training designed to address the evolving psychological, social, educational, medical, and reproductive concerns of patients and their families, which complements the multidisciplinary services of physicians, nurses, and other allied health professionals caring for patients with pediatric-onset genetic conditions. The potential range of genetic counseling needs in the pediatric setting transcends the diagnostic period. The sustained nature of pediatric care presents opportunities for development of trusting and longstanding professional relationships that permit the evolving genetic counseling needs of patients and families to be met. A discussion of cystic fibrosis, a common autosomal recessive single-gene disorder with an increasingly broad clinical spectrum and genotype–phenotype variability, serves as a useful case study to illustrate the current and emerging genetic counseling practices, goals, and challenges impacting patients and their families.

Genetic testing and diagnostic services once delivered exclusively by genetic specialists are now likely to be offered by nongeneticists in various subspecialties (Rigter et al. 2014). Concurrently, advances in diagnostic technologies are driving the need for providers to address the increasing complexity in interpretation and application of genetic testing (Helm et al. 2018; Stoll et al. 2018). Through the facilitation of informed decision-making and provision of anticipatory guidance, genetic counseling aims to empower patients and families to make knowledgeable choices about whether or not to pursue testing and gain preemptive awareness about potential genetic test results. There is no doubt that genetic counseling has informational and educational aspects, but to be effective, there must be a deeply human dimension as well (Witt and Jankowska 2018). Genetic counseling requires active use of communication skills to establish rapport, to identify, assess, and address immediate and evolving concerns and to provide targeted psychological counseling to promote establishment of a therapeutic relationship between a genetic counseling provider and patient that, from its start in the pediatric setting, may span the patient's lifetime.

The clinical, educational, psychological, and social needs of pediatric patients and their families who are referred for genetic counseling regarding common single-gene disorders and chromosomal syndromes vary according to the indication for referral and the timing and nature of the diagnosis. Common indications for genetic counseling in the pediatric setting are summarized in Figure 1. As illustrated in this figure, the potential genetic counseling requirements for children with genetic conditions and/or their parents are not confined to the initial diagnostic period. Genetic counseling may be relevant prior to delivery, when a fetus is identified to be at risk for, or conclusively diagnosed with, a genetic condition for which expectant parents would like information about prognosis and treatment. After delivery and throughout childhood and adulthood, genetic counseling needs and priorities may shift, as individuals require information, guidance, and psychological support to promote adaptation and facilitate decision-making later in life. Because patients and families most often access genetic counseling services through referral by a pediatric provider, patient access to these services depends on a provider's ability to assess, recognize, and respond to a range of potential genetic counseling needs.

Figure 1.

Indications for genetic counseling for common syndromes and single-gene disorders. Common indications for genetic counseling in the pediatric setting to discuss single-gene or chromosomal syndromes are (1) in the prenatal period, to prepare for the birth of a child with a genetic condition when positive parental carrier screening results convey increased risk for a heritable condition, suggestive ultrasound findings are identified, or prenatal diagnostic testing is confirmatory; (2) in the neonatal period following positive newborn screening (NBS) results to confirm or rule out the diagnosis, implement a management plan, and discuss implications of carrier status as appropriate; (3) during the process of seeking and confirming a diagnosis for a child with suggestive features, developmental delay, or intellectual disability; (4) for parents to discuss recurrence risk and reproductive options as well as obtain guidance regarding disclosure of diagnosis and familial implications; and (5) for a child with a genetic condition or parents to obtain updated information about the condition, learn about advances in therapeutic options, and receive ongoing support. As the child grows up, their own genetic counseling needs manifest as well.

The original genetic counseling practice model involved counselors working alongside or under the supervision of medical geneticists as part of a tertiary care genetics team. Today, however, genetic counselors are frequently embedded in medical subspecialty clinics, working directly with neurologists, cardiologists, oncologists, pulmonologists, ophthalmologists, and others in clinical and/or clinical-research roles (National Society of Genetic Counselors 2019). Including genetic counseling services within specialty clinics such as metabolic or cystic fibrosis (CF) centers is correlated with improved cost efficiency, decreased parental anxiety, increased retention of genetic information, and improved adherence to medical management (Cavanagh et al. 2010; Lang et al. 2011; Rutherford et al. 2014).

Pediatric genetic counseling may involve multiple sessions or be confined to one visit. Although a single meeting may be sufficient to resolve an individual's or family's immediate needs, multiple sessions may permit the opportunity to address multifaceted and developing needs at the point in time when issues are most pertinent to the patient or parents. An advantage of having a series of sessions over a child's early years is the longstanding therapeutic relationship that develops between the genetic counselor, child, and parents. When built upon a foundation of mutual trust and respect, this ongoing partnership enables illness-related challenges and the concerns of those with genetic conditions and their families to be discussed as they arise. Additional beneficial outcomes can emerge from this type of genetic counseling beyond helping individuals and families to understand the diagnostic process. These can include developing and sustaining effective coping strategies to manage the medical and emotional burdens of the condition, making difficult but informed choices about treatment, and obtaining anticipatory guidance about the testing of other family members and future reproductive concerns.

Genetic counseling for CF, a classical Mendelian disorder inherited in an autosomal recessive pattern, provides a useful example to illustrate current practices, goals, and challenges in pediatric genetic counseling and will be used as a case study throughout this review. Cystic fibrosis in its classic form is a progressive multisystem disease resulting in chronic pulmonary infections, pancreatic insufficiency, and male infertility, requiring multidisciplinary specialty care. Seen with the greatest frequency among persons of northern European ancestry, CF occurs in nearly all populations throughout the world. Researchers have systematically categorized the pathogenicity and penetrance of more than 400 of the more than 2000 known variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on the path to understanding genotype–phenotype correlations and identifying pharmacogenomic approaches to correction at the cellular level (Sosnay et al. 2013) (www.cftr2.org). Advances in early detection and treatment have transformed CF from a predominantly fatal disease of childhood to one in which survival into adulthood is now expected (Ronan et al. 2017). In addition, it is now recognized that patients with CFTR genetic variants may exhibit only a subset of the full clinical syndrome, and/or remain asymptomatic until adulthood. The phenotypic range and enduring impact of this condition suggests that individuals with CF and their parents may have different genetic counseling needs at various stages throughout their lifetimes.

FAMILY-CENTERED COUNSELING

Genetic counseling involves eliciting the psychological, social, and medical concerns of patients and their families, and tailoring each session with the goal of meeting their expressed and implied needs. This is accomplished in large part by explaining the purpose of the session, asking open-ended questions about the patient and family, acknowledging and validating their thoughts and feelings, checking and restating concerns, and providing information and guidance to facilitate planning and decision-making (Redlinger-Grosse et al. 2017).

During these conversations, potentially complex subjects are broached, including diagnostic testing for the proband (primary patient) and at-risk relatives, current management and treatment options, carrier testing for unaffected siblings, and reproductive recurrence risks. Sometimes the lines between the patient's needs and the family's needs become blurred. The genetic counselor endeavors to recognize, acknowledge, and respond to conflicting priorities, being mindful of the need to protect the patient's autonomy while supporting the wishes of the family, as appropriate. The rapport established during this process is vital for the development of successful professional relationships between the counselor, patient, family, and other members of the health-care team (Bernhardt et al. 2000). These relationships will facilitate the effective delivery of individualized and family-centered care over time and across a patient's life span.

THE DIAGNOSTIC WORKUP

A mainstay of pediatric medicine involves providing consultation for symptomatic individuals referred for assessment and diagnosis. With many common single-gene and chromosome disorders, a child will exhibit physical, medical, and/or developmental features suggestive of a condition; symptoms may initially present in utero or postdelivery. Therefore, the genetic counseling process necessitates meticulous collection of baseline data about the child and family, gathering information about medical, developmental, and multigenerational family histories that facilitate accurate diagnosis and/or determination of appropriate testing.

Prior to the diagnostic consultation, parents may have conducted online searches about their child's signs and symptoms (Nicholl et al. 2017), reached out to a primary care pediatrician or other trusted medical providers for information, and/or asked relatives and friends about their knowledge and experiences. Thus, the parents often arrive at a pediatric genetic counseling session with some familiarity with, and expectation of, a diagnosis. This familiarity neither predicts accurate understanding nor obviates the need for psychological counseling. Genetic conditions have variable clinical presentations and/or degrees of severity; this can hold true even within families and among those carrying the same genetic pathogenic variant(s) or chromosomal aneuploidy. Consequently, the name recognition of a condition may mask a limited or inaccurate understanding of its true nature and phenotypic range. Media accounts, including social media, may also provide a skewed or one-dimensional view of the phenotype. Through the process of genetic counseling, patient's and family's perceptions, needs, and experiences prior to diagnosis are integrated to facilitate posttest counseling, diagnostic destigmatization, and adaptation.

Test Selection and Interpretation

Historically, diagnostic genetic testing has involved the selection of targeted technology with a high degree of sensitivity and specificity based on a physical examination by a medical geneticist, review of records about previous diagnostic tests and imaging, and documentation of compatible clinical features. For example, a blood draw for chromosome analysis may be ordered to diagnose trisomy 21 (Down syndrome) in a newborn with suggestive facial features and a congenital heart defect, or targeted molecular testing of the FGFR3 gene may be ordered in a child with short stature and skeletal findings consistent with achondroplasia. Although genetic testing has always had the potential to unveil unrelated or poorly understood findings, changes in the types of testing used to detect and diagnose these children with suspected genetic disease has increased the frequency of tests that reveal unexpected diagnoses or results whose significance is unclear, and magnified the resulting genetic counseling challenges.

Chromosome microarray analysis (CMA) is now designated as a first-line test to evaluate a child with intellectual disabilities (Moeschler and Shevell 2014). Exome sequencing has become standard for infants with congenital anomalies in the neonatal intensive care unit (NICU) (Meng et al. 2017), prior to referral to a genetic specialist (see Elliott 2019). As genetic tests are increasingly utilized in pediatric care settings, concerns have been raised that nongenetic professionals may not fully appreciate nor have adequately educated patients and their families about the scope of testing and possible implications of results (Arora et al. 2017). When genetic counseling services are incorporated into the diagnostic workup, testing protocols for common diagnostic scenarios can be optimized and patients and families can be appropriately educated about the benefits, limitations, and interpretive complexities of various tests (Arscott et al. 2016).

The utilization of broad-based testing platforms in the initial workup can generate unrelated and unanticipated findings even while confirming the possible or presumptive diagnosis. For example, clinical diagnostic laboratories performing exome or genome sequencing will report the detection of pathogenic or likely pathogenic variants in genes that are analyzed as part of the diagnostic process, as well as those in other genes unrelated to the primary medical reason for testing, termed secondary findings (Kalia et al. 2017; Ormond et al. 2019). Some, but not all, of the information generated by broad-based testing will be actionable or of immediate benefit to the child and/or family. The prevalence of secondary findings in medically actionable genes likely differs based on the ethnic and racial background of the population, the choice of technology and reporting practices, and the indication for testing. However, multiple studies have reported frequencies of actionable secondary findings in the range of 1%–9% (Chen et al. 2018), a diagnostic reality that considerably magnifies the scope of pre- and posttest counseling.

Other Counseling Issues

Genetic testing may also increase rather than resolve uncertainty. Outside of applying well-characterized genetic testing methodologies for specific etiologies (e.g., investigating a panel of known pathogenic variants in a single gene or testing for aneuploidy via karyotype), there can be difficulty in distinguishing between pathogenic findings and rare polymorphisms resulting in the identification of variants of uncertain significance (VUSs). Disease-specific clinical and genetic databases, bioinformatic prediction tools, and publicly available allele frequency databases facilitate the assessment of the likelihood of pathogenicity (Richards et al. 2015). Nevertheless, there are many instances in which the data generated by testing leads to increased diagnostic uncertainty or complexity.

Additionally, as a result of using broad-based technology, genetic information critical to the provision of a complete and accurate diagnosis may be missed (Kalia et al. 2017). For example, microarray technology cannot distinguish unbalanced Robertsonian translocations from acrocentric trisomies. Thus, when a child with Down syndrome is diagnosed via microarray analysis rather than karyotyping, parents may be unaware of the possibility of a balanced parental translocation with reproductive implications unless a knowledgeable provider engages the parents in posttest genetic counseling to discuss appropriate reflex testing.

Pretest genetic counseling and the informed consent process are designed to ensure patients and families understand the limitations of genetic testing and have opportunities to ask questions and seek clarification as they make decisions about whether or not genetic testing is appropriate for their child. In addition to educating parents about why testing has been recommended and instilling confidence that most positive findings will be conclusive in confirming a genetic diagnosis, there is also a need to create a foundation for potential future discussions about clinical uncertainty or secondary finding(s). Providing anticipatory guidance about the possible clinical and psychological impact of detecting unexpected or uninterpretable findings is an important part of building rapport. In the event such a finding is identified, posttest counseling can begin from a place of trust and is more likely to meet parental expectations.

GENETIC COUNSELING FOR PARENTS OF ASYMPTOMATIC OR “AT-RISK” CHILDREN

Newborn Screening (NBS) Referrals

A notable exception to pretest informed consent as the standard of care occurs in NBS, for which practices vary across the United States (Ross 2010; Blout et al. 2014). What began in the early 1960s as a simple blood-spot test used for mass screening of infants for phenylketonuria has expanded to include a wide variety of inherited conditions, both common and rare. Universal NBS has been available in the majority of states since 1990 and in all 50 states since 2006 (Benson and Therrell 2010). Although the total number of disorders screened for differs by state, the federally commissioned Recommended Uniform Screening Panel has defined a core for which all states offer screening, as well as secondary conditions that are offered at the state's discretion (https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html). Early conditions included in NBS panels met a standard based on modified criteria formulated by Wilson and Junger (Wilson et al. 1968), which were reaffirmed and updated by the American College of Medical Genetics in 2006: The disorders are not readily detectable in neonates through clinical observation, the test has appropriate sensitivity and specificity, there are demonstrable benefits with early detection and timely intervention, and efficacious treatment is available (American College of Medical Genetics Newborn Screening Expert Group 2006).

Advances in molecular technology with corresponding relative decreases in the cost of adding new diseases to NBS panels have resulted in the expansion of NBS panels in ways which have challenged some of the fundamental principles. Additions to NBS panels have resulted in improvements in early and accurate diagnosis and treatment of affected individuals, but it has also led to the identification of individuals for whom NBS was not originally designed. This includes affected individuals for whom no significant treatment is available, mildly affected individuals who may never require treatment or remain largely asymptomatic until adulthood, those with a positive diagnosis for a disorder that lacks a clear point of onset or treatment, individuals with a poorly understood genotype who may never become symptomatic, and unaffected carriers (Salinas et al. 2016). Reports on early efforts to introduce exome sequencing to NBS programs suggest that these challenges will increase in the near future (Holm et al. 2018).

As an example, newborn screening for cystic fibrosis (CFNBS) has been available in all 50 states since 2010 (Parker-McGill et al. 2016). A tailored, family-centered approach to CFNBS genetic counseling that anticipates and responds to parents’ emotional distress and adjusts the type and amount of information based on elicited parental preferences has been delineated (Tluczek et al. 2011). The technical approach to CFNBS identifies not only patients with classic CF disease requiring immediate medical treatment, but also CF carriers, and infants who fall into an intermediate diagnostic category of CFTR-related metabolic syndrome/CF screen–positive, inconclusive diagnosis (CRMS/CFSPID). CRMS/CFSPID does not meet the typical NBS standard of requiring immediate and essential treatment in the newborn period. Infants in the CRMS/CFSPID diagnostic category are asymptomatic but have a positive CFNBS (Farrell et al. 2017), with subsequent determination of normal or intermediate sweat chloride levels and one or more CFTR variants of unknown or variable clinical consequence (VCC) (Ren et al. 2017). Both the prognosis and the clinical benefit of obtaining this information in the newborn period remain unclear. Some CFTR VCCs may confer an increased risk for later onset, CFTR-related disorders including the congenital bilateral absence of the vas deferens, chronic pancreatitis, or sinusitis. However, a subset of children with a positive CFNBS and one or more VCCs will eventually meet diagnostic criteria for CF (Ren et al. 2015).

Some parents of children with positive CFNBS results express disbelief at the possibility of a CF diagnosis given that one or both members of the couple have had CF carrier screening with negative results. Yet this can occur, as current carrier screening methodologies do not have the sensitivity and specificity to detect all pathogenic variants (Punj et al. 2018) in all genes included on the test panel, including CF. Parents may not appreciate that there is a residual risk to have a child with a genetic disorder after “negative” carrier screening (Ioannou et al. 2014). Moreover, providers who order genetic carrier screening may be unaware of differences in laboratory practices regarding the inconsistent reporting of VUSs and the classification of variants in the screening versus diagnostic settings (Westerfield et al. 2014; Vears et al. 2015). VUS results are not disclosed routinely or consistently on prenatal carrier screening reports. With a growing trend to use sequencing technology for prenatal carrier screening and the resulting apparent reassurance of a negative carrier screening result, it can be even more disconcerting and confusing for parents when their baby has a positive NBS result.

Variability in the general public's and providers’ baseline understanding of the process, scope, and limitations of NBS and its interface with prenatal screening practices present significant challenges for genetic counseling in the neonatal period. As NBS for more conditions becomes standard practice, with genetic sequencing as the method of choice, ensuring that parents of newborns understand the implications of complex NBS results will increase the need for follow up pediatric genetic counseling. Additionally, parental preferences for prescreening information and delivery of results, including diagnoses of nonmedically actionable conditions in children and genetic information with unclear prognoses may differ based on educational, cultural, and socioeconomic factors (Joseph et al. 2016). Because of the educational, clinical, and diagnostic challenges associated with NBS, it is critical that genetic counseling services be provided to bridge the gaps between genetic technology, scientific advancement, and real-world application with the goal of improving patient care. Inclusion of genetic counseling in NBS follow-up protocols and establishing professional relationships between genetic counselors and designated NBS treatment facilities will be key to ensuring genetic counseling access to patients and families of children with positive NBS results.

Referrals Generated in Response to Positive Parental Carrier Screening Results

Genetic carrier screening has been an established part of preconception and prenatal care for decades. Initially, carrier screening was limited to a small panel of well-characterized pathogenic variants and targeted to ethnic and racial groups with increased carrier frequencies for specific conditions and individuals with positive family histories. Over time, it has become clear that self-reported ethnicity is not always a reliable predictor of genetic risk (Shraga et al. 2017). Concurrently, new developments in laboratory technology have led to the availability of numerous expanded carrier screening panels capable of detecting hundreds of pathogenic variants associated with genetic disease that are designed for universal use and are not tied to an ethnic predilection or family history (Nazareth et al. 2015). Use of expanded reproductive screening methodologies intended to improve the detection of at-risk individuals/couples results in downstream opportunities for genetic counseling, including addressing psychological responses and helping to navigate diagnostic challenges in the pediatric setting. Ensuring that parents have the opportunity to ask questions of a knowledgeable pediatric care provider prior to conceiving future pregnancies will allow them time to process information and facilitate informed reproductive decision-making in keeping with their values and priorities. Some couples will decide not to alter their reproductive planning or decision-making based on carrier status. However, knowledge of positive carrier status and the medical and developmental concerns associated with a particular condition can impart benefits in the perinatal and pediatric settings, including management of a potentially high-risk pregnancy, preparation for possible birth complications, and facilitation of testing and/or early intervention in the newborn period (Ciarleglio et al. 2003; Langfelder-Schwind et al. 2014; Nazareth et al. 2015).

DIAGNOSTIC CONFIRMATION AND RESULTS DISCLOSURE

The genetic counseling needs of pediatric patients and their families vary depending on the timing, nature, and implications of the diagnosis. In family sessions, information is shared and the families’ understanding is assessed, expanded, refined, and/or corrected. Simultaneously, genetic counseling encourages, validates, and addresses affective responses that may interfere with comprehension and coping strategies. The finality of a diagnosis can cause tremendous emotional distress, triggering a cascade of feelings: shock, confusion, helplessness, anger, and grief (Ashtiani et al. 2014). Parents may also experience positive feelings including relief, validation, or empowerment upon receiving their child's diagnosis (Carmichael et al. 1999; Makela et al. 2009). A genetic counselor's ability to appropriately gauge and respond to the need for information specific to the diagnosis, including phenotype, prognosis, mode of inheritance, and recurrence risk, while effectively attending to a family's primary concerns and emotional needs is a product of training that addresses knowledge, rapport, and strong communication skills.

Treatment of Genetic Conditions

One of the primary goals of establishing a genetic diagnosis is to create a medical management and treatment plan. With rare exceptions, the ability to diagnose has far outpaced the development of effective treatments or preventative measures for most “simple” single-gene and chromosome disorders. Although genetic counselors may not have hands-on involvement in the provision of treatment for genetic conditions, it is within their scope of practice to discuss the existence of current treatment and management protocols. Pediatric genetic counseling routinely includes descriptions of the current state of therapeutic options and the research pipeline, as well as information about how to access current and future clinical trials.

CF is one of a handful of conditions at the forefront of genotype-driven approaches to therapy for genetic disease, and the experience gained will likely serve as a primer for other diseases to follow. Ensuring that patients are well-informed about the current state of research and the likelihood of new treatments becoming available without creating unrealistic expectations is an important and difficult balance to maintain. Concerns have been raised that introducing the topic of novel and experimental therapies in a genetic counseling session may instill false hope in parents and potentially impact reproductive decision-making (Elsas et al. 2017). The unfulfilled initial promise of gene therapy as a cure for genetic conditions such as CF and the more recent success of genetic modulator therapies for CF illustrate the challenge of balancing appropriate levels of hope and caution.

Shortly after CFTR was discovered (Riordan et al. 1989), clinical trials began for gene replacement therapy (Crystal et al. 1994). It was widely anticipated that CF would be the first genetic disease successfully treated and cured by gene therapy (Lindee and Mueller 2011); however, efforts to develop a gene therapy–based cure for CF have not been successful to date. Greater success has been achieved for spinal muscular atrophy (SMA), a debilitating neurodegenerative condition, for which a life-extending and symptom-mediating gene therapy is now clinically available (Groen et al. 2018). In large part because of leadership, strategic planning, and funding from a patient advocacy organization, The Cystic Fibrosis Foundation (CFF) (Heltshe et al. 2017), several effective, FDA-approved CFTR modulators are now clinically available to patients with specific genotypes beginning as early as infancy (Taylor-Cousar et al. 2017; Rosenfeld et al. 2018). The cost of novel genetic-based therapies remains a potential barrier to their widespread use (Friedmann 2017; Sharma et al. 2018). As more FDA-approved genetic modulators come to market, ensuring awareness of and facilitating access to cutting-edge therapies is an increasingly essential component of genetic counseling, particularly in a pediatric specialty care setting.

Carrier Testing for Siblings

The rights of parents to make decisions about what testing is performed on their child may come into conflict with the genetic counselor's duty to uphold standards of practice (see Hercher 2019). It is common for parents to be curious or invested in learning the carrier status of their children. Although there is little debate about the use of genetic testing to diagnose a pediatric-onset genetic condition in the siblings of an affected child, particularly when there are medical benefits attributed to early diagnosis and intervention, carrier testing in unaffected minor siblings is generally not recommended (Botkin et al. 2015). When working with a family that is seeking pediatric testing in the absence of medical necessity, it is challenging to maintain a trusting relationship and balance conflicting desires. Some clinicians agree to facilitate carrier testing for unaffected siblings, taking into account the maturity and wishes of the minor, parental concerns, and the health and reproductive implications for the child, depending on the genetic condition (Vears et al. 2015). Exploring the parents’ motivation for testing, explaining the reasoning behind professional recommendations, and facilitating a plan to offer carrier testing to siblings when they are able to make an informed decision about the test and understand the implications of the result may serve to reassure parents that information about their carrier status will be accessible to their child when they need it.

REPRODUCTIVE PLANNING FOR PARENTS

Pediatric genetic counseling encompasses a discussion of recurrence risks and options for prenatal/preconception testing with the parents of children with genetic conditions. Initiating the conversation in pediatric genetic counseling provides parents with the opportunity to consider all available reproductive options, including preimplantation genetic testing (PGT), targeted prenatal diagnosis, conception with gamete donation, adoption, and natural conception without prenatal testing, and sets a foundation for future reproductive planning and decision-making. For parents who plan to pursue assisted reproductive technology with PGT or targeted prenatal testing, proper documentation of familial genotypes and parental carrier test results is needed, prior to a subsequent conception. Although comprehensive discussions regarding the process, benefits, limitations, and risks of the preimplantation and prenatal procedures preferably include both a reproductive endocrinologist and a prenatal genetic counselor, assisting parents in the pediatric setting can facilitate future reproductive planning and implementation.

In providing education about reproductive test options and reproductive rights, genetic counselors risk alienating or distressing their clients. For example, some parents of children with genetic conditions may have feelings of guilt and remorse about either considering or planning to terminate a subsequent affected pregnancy. Alternatively, parents may express feelings of disappointment, disbelief, or anger when trusted clinicians previously perceived as staunch advocates for their children seem to be biased against them having additional children with the same condition. It may appear as if the lives of those affected with a genetic condition are being judged as inadequate and that technology is contributing to a world less tolerant of disability (Madeo et al. 2011). The tension that exists between the disability and genetic counseling communities has inspired many genetic counselors to explore how their own and societal attitudes and beliefs concerning disability color their practice and to pursue opportunities to collaborate with and learn from the disability community (Madeo et al. 2011). It has also motivated individuals involved in the development of genetic counseling training curricula to include disability studies and provide additional opportunities for trainees to have experiences with people with disabilities outside of a medical setting (Sanborn and Patterson 2014). It is clear that genetic counseling must elicit patient values and concerns while offering accurate and balanced portrayals of both biomedical and human aspects of having and raising a child with a genetic condition. Ideally, this will help to ensure that individuals learning about their reproductive test options and rights feel fully supported and validated by their professional care team to make autonomous decisions.

GENETIC COUNSELING NEEDS ACROSS THE LIFE SPAN

Much of genetic counseling in the pediatric setting focuses on providing information and support to parents of children with genetic conditions about their child's condition, prognosis, and expectations for adulthood. As children grow up, their genetic counseling needs may simultaneously overlap and become distinct from those of their parents (Hufnagel et al. 2016). Genetic counselors who are connected to families throughout the life span of the child can provide support to parents and also meet directly with children and adolescents to provide developmentally appropriate information (Hartley et al. 2011). In this way, genetic counseling services complement the lifelong advocacy provided by disease-specific support groups and services that often provide patients and families with invaluable assistance and guidance in both the short term and long term.

Some adolescent needs for genetic information and counseling are invariably linked to their own reproductive behaviors and goals. Genetic counselors’ role in providing sex education is variable, in part because of perceptions of the scope of practice (Murphy et al. 2016). In addition, patients and parents may be embarrassed or uncomfortable introducing questions about sexual health and reproduction in a health-care setting (Havermans et al. 2011). Positive perceptions of genetic counseling by adolescents are strengthened by understanding the genetic counselor's role in their care and feeling empowered to maintain personal control of the session, such as by being asked whether they would prefer to have their parents present. Adolescents report that normalizing the concept of genetic variation among all people fosters adaptation to their condition (Pichini et al. 2016).

Today, more than half of all people living with CF in the United States are over the age of 18 (Cystic Fibrosis Foundation 2018). A genetic condition once firmly in the wheelhouse of pediatric providers, with parents expecting to outlive their children, CF treatment now requires adult care providers and a willingness on the part of pediatricians and parents to transition patients to a new health-care team and support structure that may involve a significant other assuming the role of caregiver. Reproductive genetic counseling sessions once limited to discussions with parents are now a point of care offered to adults with CF. Men and women with CF are having children of their own and benefit from genetic counseling to provide anticipatory guidance, identify resources, and set expectations (Tsang et al. 2010). Recognition of the evolving reproductive needs of individuals with CF and other genetic conditions associated with increased longevity is an essential component of genetic counseling.

CONCLUSION

As seen in the example of genetic counseling for CF, genetic counseling services in the pediatric setting can transcend the diagnostic period and are strengthened through establishing rapport and developing therapeutic relationships over time. Rooted in the areas of health-care communication and education, risk analysis, facilitated decision-making, patient advocacy, and short-term psychological counseling, genetic counseling complements ongoing multidisciplinary care and aims to address evolving concerns across the life span. Increasing demands for genetic expertise in various fields of practice will continue to drive the expansion of genetic counseling services into general and specialized multidisciplinary care settings, whereas ongoing advances in technology and personalized medicine will intensify the demand for knowledgeable providers to meet the genetic educational, social, and psychological needs of patients and families.

The core principles of establishing rapport and maintaining a trusting patient–provider relationship are fundamental components of genetic counseling for children and their families undergoing genetic evaluation, and as their genetic counseling needs evolve over time. Diagnostic testing for common single-gene disorders and syndromes frequently generates interpretive complexities and outpaces the existence of successful treatments. Moreover, broad-based genetic testing platforms are expanding the capabilities of modern medicine to assign genetic contributions to thousands of diseases, driving mainstream medicine to better recognize, diagnose, and manage genetic aspects of rare and common conditions. To effectively bridge the gap between laboratory findings and clinical application for the benefit of patients and families, the field of genetic counseling must endeavor to retain and expand the paramount human element of genetic counseling care.