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Genetic Testing for Autism Spectrum disorders

Summary Advances in molecular genetics have led to the increasing availability of genetic testing for a variety of inherited disorders. Table of Contents 1. He also teaches and works as a clinician. Request an e-inspection copy. Share this Title. Recommend to Librarian. Numerous professional organizations make recommendations to include a medical professional trained in genetics, such as a genetic counselor, in the genetic testing decision making process.

A typical genetic counseling session will include review of at least three generations of family history, discussion of the genetic condition s of interest, and in depth informed consent for any genetic testing being considered. The genetic counselor will assist the patient in understanding the complexities of genetic testing, including limitations and benefits, and how results may impact not only themselves and their reproductive decision making, but also their family members. Consultations may last anywhere from half an hour to over two hours depending on the breadth and depth of the discussion, and the number of questions your patient has.

Cancer Genetics is the study of hereditary and familial cancer. The primary goal of cancer genetic counseling is to identify individuals and families at increased risk of cancer for the purpose of promoting awareness, early detection, and cancer prevention. There are many known genes that can cause inherited forms of cancer in certain families including hereditary breast and ovarian cancer, hereditary colon cancer and others.

Identification of these inherited cancer syndromes allows for targeting at-risk individuals for the most appropriate medical management. Who should I refer to a cancer genetic counselor? In some families, a pattern of cancer is obvious, while in others it may be difficult to detect a pattern due to small family size, incomplete family history, or inability to document diagnoses. Patients with the following should be referred to a cancer genetic counselor: Cancer diagnosed at an unusually young age e. A cancer genetic counselor can help identify who is at risk for an inherited cancer syndrome and discuss screening and prevention options for those individuals.

A cancer genetic counselor also facilitates the genetic testing process by identifying the most informative family member to test, assessing the most appropriate genetic test s for patients and their families, interpreting the results, and helping patients and their physicians apply the results to medical management decisions. Genetic counselors help families with inherited cancer risk deal with many of the personal aspects of having an inherited condition in the family, such as decisions about screening and prophylactic surgeries, discussion of these issues with at-risk family members, and the emotional adjustment to a gene mutation associated with increased cancer risk.


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They can also facilitate referrals to long-term resources such as appropriate healthcare providers for ongoing surveillance and management, community agencies, support groups, and other families with the same condition. What evidence is there to recommend or support genetic counseling in cancer genetics?

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For health care providers working with cancer patients, it is becoming standard practice to ask about the family history of cancer or refer for cancer risk counseling. The American Society of Clinical Oncology ASCO has issued a statement J Clin Oncol ; 24 31 indicating that it is the responsibility of the clinical oncologist to ascertain families at risk for inherited forms of cancer. During an appointment, the cancer genetic counselor will typically: Collect a detailed cancer-focused personal and family medical history Assess the patient's risk of developing cancer-based on the collected information Determine whether or not the history is suggestive of an inherited cancer syndrome Provide patient education and answer questions about cancer risks, the option of genetic testing, and the risks, benefits, and limitations of genetic testing Review medical management options with or without genetic testing If desired, coordinate genetic testing and provide results and test interpretation to the patient and referring provider.

Provide psychosocial support to patients and families, and facilitate communication between patients and their families regarding risk information and recommendations After the visit, the cancer genetic counselor will communicate back to primary care and referring physicians so that risk assessment information can be incorporated into ongoing management Back to top Cardiovascular Genetics What is cardiovascular genetics? Cardiovascular genetics is a genetics specialty that focuses on hereditary cardiovascular diseases. These conditions include inherited forms of cardiomyopathies, arrhythmias, aortopathies, cardiac amyloidosis, as well as familial coronary artery disease, muscular dystrophies associated with heart disease, and congenital heart disease.

Who should I refer to a cardiovascular genetic counselor? A cardiovascular genetic counselor takes a complete family history, identifies who in the family is at risk for an inherited cardiovascular disease and discusses screening, prevention, and medical management options for those individuals. A cardiovascular genetic counseloralso facilitates the genetic testing process by identifying the most informative family member to test, assessing the most useful genetic test for a patient and their family, interpreting the results, and helping the family and their physicians apply the results to the family's care.

Genetic counselors help families with hereditary heart conditions deal with many of the personal aspects of having an inherited condition in the family, such as decisions about reproductive options and family planning as well as adjusting emotionally to having or being at risk for a hereditary heart condition.

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They can also facilitate referrals to long-term resources such as community agencies, advocacy groups, and other families with the same condition. What evidence is there to recommend or support genetic counseling in cardiovascular genetics? Genetic counseling interventions have been shown to increase the number of at-risk relatives with hereditary heart disease who present for recommended clinical evaluations Forrest et al , Van Der Roest et al Research has also demonstrated that families with inherited cardiac conditions prefer having genetic counseling as part of their care and have better psychological outcomes when a genetic counselor is involved in their care Ingles et al , Andersen et al Genetic counseling can also be key to ensuring the accurate and appropriate use and interpretation of genetic tests Caleshu et al , Brierly et al What do I tell my patient about a referral to cardiovascular genetics?

The goal of an appointment with a cardiovascular genetic counselor is to help the patient and the family with a hereditary heart condition understand what it means for each family member, both personally and medically. An appointment with a cardiovascular genetic counselor will include discussing the patient's medical and family histories.

The counselor may ask questions about cardiac conditions in the family, cardiology evaluations for family members, and symptoms related to hereditary cardiac disease. The counselor will also identify family members at risk for hereditary cardiac conditions, and discuss recommendations for medical evaluations. A counselor can also offer support and counseling to address psychosocial issues that may arise when a genetic condition is identified in a family. Referral to a CF genetic counselor is appropriate for a wide range of indications. Referral for preconception or prenatal genetic counseling regarding CF carrier testing is indicated for couples who are at increased risk based on family history or ethnic background.

Genetic counseling in these cases may also include discussion of prenatal testing options for CF. Families of infants with a positive newborn screen for CF are recommended to meet with a genetic counselor as part of the evaluation process. In addition, genetic counseling can be beneficial for any patient with a known or suspected diagnosis of CF, CRMS, or another CFTR-related spectrum disorder, as well as for family members of these individuals.

Identification and referral of patients who may be at risk for these conditions can come from a diverse range of specialties; for example, a male patient being evaluated for possible genetic causes of infertility may be referred to a CF genetic counselor. Genetic counselors interpret this information in the context of the patient's medical and family history information as well as results of various CF-related screening and diagnostic tests to provide patients with accurate risk assessment. Genetic counselors can facilitate the genetic testing process for patients and their family members.

Genetic counselors also provide psychosocial counseling to address individual issues and concerns that arise as part of this process. CF care teams can utilize and integrate genetic counselors into their comprehensive teams. In addition to providing the services described above, genetic counselors are able to keep up to date on new mutation-specific treatments and trials that are available for CF patients such as VX, VX, etc. All of the US states and many other countries have implemented newborn screening for CF, and most states include a DNA testing component as part of their newborn screening algorithm.

The implications of a positive newborn screen for CF and the issues surrounding the follow-up evaluation and diagnostic process can be complex, and genetic counselors can work with patients and their families to inform them about the significance of the newborn screen result. In addition, a positive newborn screen for CF often comes as a surprise to parents, who may have little to no prior familiarity with CF. A CF genetic counselor is able to address the emotional and psychosocial issues that arise through this process.

What evidence is there to recommend or support genetic counseling in CF genetics? A number of professional organizations have endorsed the benefit of CF genetic counseling.

Genetic Testing: Accounts of Autonomy, Responsibility and Blame - CRC Press Book

Farrell et al. J Pediatr. Obstet Gynecol. Research specifically related to the process of CF newborn screening has provided empiric evidence supporting the benefit of genetic counseling for families of infants with a positive newborn screen result for CF, showing that families who receive genetic counseling services demonstrate a better understanding of the implications of their child's newborn screen result than those who do not Ciske et al.

What do I tell my patient about a referral to CF genetics? Patients referred to a CF genetic counselor can expect their appointment to include several components. The genetic counselor will obtain a detailed medical and family history, which will include targeted questions that will assist the genetic counselor in providing accurate risk assessment and counseling i. For patients interested in genetic testing for CF, the genetic counselor can provide information on the pros and cons of various testing options and will be able to facilitate the genetic testing process.

Where can I find a genetic counselor specializing in CF genetics? Fetal Intervention and Therapy FIT is a specialized area of prenatal genetics that focuses on pregnancies diagnosed with fetal anomalies. Fetal therapy refers to the diagnosis, and sometimes treatment, of fetal anomalies before birth. Genetic counselors work as part of a multidisciplinary team in centers that provide comprehensive diagnostic services. Fetal intervention centers typically include many different and highly specialized care providers, such as fetal surgeons and maternal fetal medicine specialists.

Some centers offer fetal interventions, which can range from less invasive procedures such as amnioreductions to more invasive procedures like open fetal surgery.


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  4. Who should I refer to a Fetal Intervention and Therapy genetic counselor? Patients with pregnancies diagnosed with fetal anomalies, including: Multiple congenital anomalies Conditions for which fetal intervention may be available, such as myelomeningocele and congenital pulmonary airway malformation CPAM Conditions for which specialized care will be required at delivery, including ex utero intrapartum treatment EXIT or extra corporeal membrane oxygenation ECMO Conditions that will require care by pediatric specialists after delivery What benefit does a Fetal Intervention and Therapy genetic counselor provide to my patients?

    A Fetal Intervention and Therapy genetic counselor provides a thorough assessment of the family and personal medical history. We discuss recurrence risks for future pregnancies and risks to other family members, as well as available screening options for the condition.

    We also facilitate the genetic testing process, by identifying the most useful genetic test for the patient and their family. We also assist with coordination of post-natal care and help communicate recommendations to families and healthcare providers. We work as liaisons to pediatric providers and help families bridge the gap between pre- and post-natal care. Finally, we help patients and their families deal with the psychosocial aspects of a fetal diagnosis.

    We discuss pregnancy options and provide emotional support. We assist with referral to other resources, like counselors, support groups or even other families as needed. What do I tell my patient about a referral to Fetal Intervention and Therapy genetics? We will discuss any testing options that may be available to provide more information regarding the patient's pregnancy. We will discuss the fetal condition and review option for intervention, if available, in terms that make sense to the patient.

    We will also provide support and referrals to community resources as needed. Each center has their own evaluation process, so the patient may have appointments with other professionals as well. Hematology genetics is the study of genetic and environmental factors that influence non-malignant hematologic conditions. Some of these conditions include bleeding disorders, thrombophilias and hemoglobinopathies.

    These disorders have various etiologies, disease causing mutations and inheritance patterns. Genetic testing is available for many of the known disease causing genes, and there is ongoing research to identify additional causative or disease-modifying genes. Who should I refer to a genetic counselor that specializes in hematology? Individuals who have a diagnosis or family history of a benign hematologic condition should be referred. Referral to a hematology genetic counselor should also be considered when a patient has a known or suspected genetic condition involving hematologic disease such as Fanconi anemia, Hermansky-Pudlak syndrome or thrombocytopenia absent radius TAR syndrome.

    Patients will benefit from genetic services throughout the many stages of their life i. What evidence is there to recommend or support genetic counseling in hematology genetics? The American College of Medical Genetics has issued guidelines for Factor V Leiden and prothrombin GA testing, which include the use of genetic counselors for result interpretation and communication with the patient.

    In addition, the use of genetic counseling in thrombophilia care is discussed in articles by Varga , E. What do I tell my patient about a referral to hematology genetics what to expect during the appointment, what questions will be asked, what topics will be discussed, how the appointment will be valuable to them? Genetic counseling appointments are tailored to each patient's reason for referral and questions.

    In general, your patient's medical and family histories will be obtained and available testing results will be reviewed. The patient's genetic diagnosis, the inheritance pattern of the disease and risks to other family members will be discussed in detail. Psychosocial issues and reproductive options will also be discussed, particularly if your patient is interested. The goal of the appointment is to provide your patient with information that is accurate, concise and easy to understand.

    Patients who meet with a genetic counselor have a unique opportunity to receive ongoing support, information and continuity of care all of which provide a solid foundation for personalized and informed decision making. Back to top Metabolic Genetics What is metabolic genetics? Metabolic genetics is a medical specialty that focuses on the diagnosis, treatment, and long term follow-up of patients with inborn errors of metabolism.

    These conditions include: disorders of amino acid and organic acid metabolism, fatty acid oxidation disorders, glycogen storage disorders, peroxisomal disorders, urea cycle disorders, disorders of carbohydrate metabolism and transport, disorders of creatine metabolism and transport, mitochondrial disorders and lysosomal storage disorders. There are hundreds of different inborn errors of metabolism. Who should I refer to a metabolic genetic counselor? Infants with suspected metabolic disease due to an abnormal newborn screen Infants and children with failure to thrive, growth and developmental delays, autism, or intolerance to certain foods protein, fructose, etc.

    A metabolic genetic counselor works with geneticists, registered dieticians, nurses and other allied health professionals to provide quality care for a patient with an inborn error of metabolism. The counselor helps explain the testing process, results, and details about the specific diagnosed disease, including its inheritance, treatment, and risk of recurrence.


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    What evidence is there to recommend or support genetic counseling in metabolic genetics? The following publications and guidelines support the use of genetic counseling: Hartley JN et al, J Genet Couns Feb: 20 1 : Kishnani PS et al, Genet Med 7 — The counselor may ask questions about family members living or deceased who required a special diet, had mental retardation, seizures, or sudden death. The geneticist will review this information and perform a physical exam. Once a specific diagnosis is suspected, the geneticist or genetic counselor will explain the details of this diagnosis and the process of testing genetic, biochemical, or other for the condition.