About Genetic Counselors

Genetic Counselors - By Specialty

Genetic Counselors are an integral part of clinical care in many areas of medicine.

Growing consumer awareness and the increasing availability of genetic tests for many conditions is likely increasing the number of questions your patients are asking about their risk of disease, the risk to their offspring and whether genetic testing is right for them. Genetic counselors can help you address your patients' needs and incorporate genetics and genomics into your practice.

Click on your specialty to find out how a Genetic Counselor can

Genetic Counselors also serve key roles in various other areas, such as education, health information technology, industry, public health, research, and telegenetics. The NSGC has Special Interest Groups focused on these areas and you can learn more about them by clicking here.


ART/Infertility Genetics

  1. What is ART/Infertility genetics?

    The ART/Infertility genetics specialty focuses on genetic causes of male or female factor infertility and genetic technologies in assisted reproduction, such as preimplantation genetic diagnosis (PGD).  Genetic counselors that specialize in this area of genetics also provide family history risk assessment for prospective gamete donors or persons utilizing ART as well as interpretation of positive genetic test results.
  2. Who should I refer to an ART/Infertility genetic counselor?

    Patients who could benefit from genetic counseling services include:
    • Males with severe oligospermia or non-obstructive azoospermia
    • Males with congenital absence of the vas deferens
    • Females with primary ovarian insufficiency (formerly referred to as premature ovarian failure) or early menopause
    • Anyone interested in preimplantation genetic testing for aneuploidy and/or single gene disorders
    • Any patient presenting for preconception counseling who is a carrier of a genetic disease or has  a personal or family history of genetic disease, birth defect, mental retardation, autism
    • Any patient considering genetic testing
    • Anyone interested in assessing their family history for possible genetic risks or test recommendations prior to pregnancy
    • Discussion with intended parent with questions about their donor risk assessment if desired
  3. What benefit does an ART/Infertility genetic counselor provide to my patients?

    Having a genetic counselor thoroughly review and interpret the family medical history helps ensure that couples using ART have appropriate genetic testing prior to their cycle.  This enables them to consider PGD when indicated.  The genetic counselor can also provide health information about a gamete donor and interpret potential risks to offspring through the use of family history risk assessment. A genetic counseling session provides patients with an explanation of how certain genetic changes may be associated with their infertility, education about using assisted reproductive technologies to lessen genetic risks to offspring, and psychosocial support for patients coping with reproductive implications of genetic test results.

    Genetic risk assessment services typically include:
    • 3 generation pedigree for the patient or gamete donor
    • Research about specific conditions/ testing
    • Pedigree analysis/ risk assessment
    • Genetic screening recommendations indicated by ethnicity/ancestry or family history
    • Genetic test result interpretation
    • Communication of test results
    • Recommendation for further studies as indicated by test results
    • Summary letter for clinic, patient or donor reference
    • Discussion with intended parent with questions about their donor risk assessment, if desired
  4. What evidence is there to recommend or support genetic counseling in ART/Infertility genetics?

    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.  Organizations which have statements on genetic testing include:
    • American Congress (formerly College) of Obstetricians and Gynecologists
    • American College of Medical Genetics  (ACMG)
    • American Society for Human Genetics
    • National Society of Genetic Counselors
    • Preimplanation Genetic Diagnosis International Society (PGDIS)
    • American Society for Reproductive Medicine (ASRM)
    • Additionally, ACMG has published a practice guideline regarding appropriate indications for referral to a medical genetics professional. 
    • National Society of Genetic Counselors Position Statement: Preconception/Prenatal Genetic Screening.  Accessible at http://www.nsgc.org/   (2005).
  5. What do I tell my patient about a referral to ART/Infertility genetic specialist?

    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.

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 Cancer Genetics

  1. What is cancer genetics?

    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.
  2. 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.g. breast or colon cancer before age 50)
      • Multiple close family members with the same type of cancer or related cancers (e.g. breast and ovarian cancer, colon and uterine cancer)
      • Two or more primary cancer diagnoses in the same individual (e.g. breast cancer in both breasts, breast and ovarian cancer)
      • Rare cancers or unusual tumors (e.g. medullary thyroid cancer, retinoblastoma, hepatoblastoma, male breast cancer, adrenal cortical carcinoma, pheochromocytoma and paraganglioma)
      • Presence of other features associated with an inherited cancer syndrome (e.g. multiple colon polyps)

    Other patients who may benefit from a referral to a cancer genetic counselor include:Members of a family with a known hereditary cancer syndrome

      • Individuals with extreme cancer anxiety, even in the absence of heightened risk
      • Individuals considering genetic testing for cancer risk
      • Individuals with questions about cancer risk in family members
      • Individuals with heightened risk based on family history or known gene mutation who have questions about cancer screening, prevention or treatment
      • Individuals who have had genetic testing for cancer risk and would like more detailed discussion of their test results
  3. What benefit does a cancer genetic counselor provide to my patients?

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

    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 2006; 24(31):5091-5097) indicating that it is the responsibility of the clinical oncologist to ascertain families at risk for inherited forms of cancer.

    Other professional societies with published guidelines recommending cancer risk assessment include:
    • American College of Obstetrics and Gynecology (Obstet Gynecol, 113:957-66)
    • United States Preventive Services Task Force (Ann Intern Med 2005;143(5):362-79)
    • Society of Gynecologic Oncology (Gynecol Oncol 2007;107(2):159-62)
    • National Comprehensive Cancer Network
    • American Gastroenterological Association (Gastroenterology 2001;121(1):195-7)
  5. What do I tell my patient about a referral to cancer genetics?

    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
    • 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

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Cardiovascular Genetics

  1. What is cardiovascular genetics?

    Cardiovascular genetics is the 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.
  2. Who should I refer to a cardiovascular genetic counselor?

    Patients with suspected or known hereditary cardiovascular disease or with a family history of hereditary cardiovascular disease, including:
    • Familial cardiomyopathies:
      • Hypertrophic cardiomyopathy (HCM)
      • Leftventricular non-compaction cardiomyopathy
      • Idiopathic or familial dilated cardiomyopathy (DCM)
      • Restrictive cardiomyopathy (RCM)
      • Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C),
  3. Inherited arrhythmias and channelopathies:

    • Long QT syndrome
    • Short QT syndrome
    • Brugada syndrome
    • Catecholaminergic polymorphic ventricular tachycardia
  4. Hereditary conditions affecting the aorta and other blood vessels

    • Marfan syndrome
    • Loeys-Dietz syndrome
    • Ehlers-Danlos syndrome
    • Familial aortic aneurysms
  5. Family history of sudden cardiac death before the age of 50

  6. Familial coronary artery disease

  7. Familial hypercholesterolemia

  8. Congenital heart disease

  9. What benefit does a cardiovascular genetic counselor provide to my patients?

    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.  They can also facilitate referrals to long-term resources such as community agencies, advocacy groups, and other families with the same condition.
  10. What evidence is there to recommend or support genetic counseling in cardiovascular genetics?

    A number of expert opinions recommend genetic counseling for individuals and families with hereditary heart conditions (Judge et al 2009, Fowler et al 2009, ACC/AHA/ESC 2006: Guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death—executive summary). In addition, The Heart Failure Society of America recommends genetic counseling for patients and families with cardiomyopathy (Hershberger et al 2009, http://www.heartfailureguideline.org/genetic_counseling/129 ).

    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 2008, Van Der Roest et al 2009).  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 2008, Andersen et al 2008). Genetic counseling can also be key to ensuring the accurate and appropriate use and interpretation of genetic tests (Caleshu et al 2010, Brierly et al 2010).
  11. 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 may discuss genetic testing options, the pros/cons of genetic testing, and the implications of genetic testing for the patient and family members. 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.

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 Cystic Fibrosis Genetics

  1. What is cystic fibrosis genetics?

    The specialty area of cystic fibrosis genetics encompasses a wide range of clinical presentations associated with the CFTR gene, including:
    • Classic cystic fibrosis (CF)
    • CFTR-related metabolic syndrome (CRMS)
    • Other CFTR-related disorders (i.e. hereditary pancreatitis and some forms of male infertility)
  2. Who should I refer to a cystic fibrosis genetic counselor?

    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. 
  3. What benefit does a CF genetic counselor provide to my patients (PCP and/or specialist) ?

    A CF genetic counselor provides the benefit of expertise in the complexities of CFTR-related genetics, and is able to incorporate factors such as mutation class and specific genotype/phenotype correlations into their consultations with patients.  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-770, VX-809, 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.  
  4. 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. The Cystic Fibrosis Foundation (CFF) has published several guidelines for the diagnosis and management of CF and CRMS, all of which have endorsed consultation with a genetic counselor as a recommended component of the evaluation and diagnostic work-up of individuals with suspected CF, CFTR-related disorder, or CFMS. (Farrell et al. 2008. J Pediatr. 153(2): S4–S14; Borowitz et al. 2009. J Pediatr. 155:S73-93; Borowitz et al. 2009. J Pediatr. 155:S106-116).  The American College of Obstetrics and Gynecology (ACOG) has published specific guidelines regarding carrier screening for CF, which also support the benefit of genetic counseling services in this setting (ACOG Committee Opinion No. 325. 2005. Obstet Gynecol. 106:1465-1468).  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. 2001. Pediatrics. 107:699-705).
  5. 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.e. history of CF in the family; individuals with a history of symptoms that may be related to CFTR, including respiratory and/or lung disease, digestive issues, pancreatitis, or infertility; and ethnic background).  Part of the appointment will be devoted to providing information about the genetics of CF, CRMS, and/or other CFTR-related disorders, including inheritance pattern, recurrence risks, and additional information related to the specific CFTR mutation identified for the patient or in the patient's family. 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. 
  6. Where can I find a genetic counselor specializing in CF genetics?

    Search the NSGC Find a Genetic Counselor Directory.  The website for the Cystic Fibrosis Foundation  also includes links to CF care teams around the country, many of which include a genetic counselor as part of their practice or have relationships with CF genetic counselors.

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Fetal Intervention and Therapy Genetics

  1. What is Fetal Intervention and Therapy?

    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.
  2. 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
  3. 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.  In this assessment, we address factors related to the fetal condition(s) for which the patient is referred, as well as other factors that could affect future pregnancies or personal health.  We discuss recurrence risks for future pregnancies and risks to other family members, as well as available screening options for the condition.

    We also facilitates the genetic testing process, by identifying the most useful genetic test for the patient and their family.  We help coordinate the testing process, as needed, and communicate results to the patient and their healthcare providers.

    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.
  4. What do I tell my patient about a referral to Fetal Intervention and Therapy genetics?

    Your patients can expect the genetic counselor to review their medical history and family history.  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.

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Hematology Genetics

  1.  What is hematology genetics?

    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.
  2. 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.e., preconception, prenatal, pediatric, and adult).    
  3. What benefit does a hematology genetic counselor provide to my patients (PCP and/or specialist)?

    A genetic counselor who specializes in hematology can educate your patient about his/her diagnosis, including information about how a diagnosis is made, the clinical characteristics, inheritance pattern and genetic components of the disease, as well as the benefits, limitations and risks of genetic testing.  A genetic counselor can interpret previous test results for your patient, explain how these results can impact family members and support your patient as he/she makes important decisions regarding diagnostic testing, carrier testing, or whether to pursue a prenatal diagnosis.

    What evidence is there to recommend or support genetic counseling in hematology genetics? (i.e. list Practice Guidelines, Publications, and Policies that recommend and support genetic counseling in this clinical area and we will hyperlink to them on the NSGC website if they're available online or include a PDF document) ?

    The World Federation of Hemophilia has expressed their position on the importance of genetic counseling for individuals with hemophilia in their publication “ Genetic Counseling for Hemophilia ”.

    The National Institute of Health has a published “ The Management of Sickle Cell Disease ” which also emphasizes the role of genetic counseling for families affected with sickle cell disease.

    The American College of Medical Genetics has issued guidelines for Factor V Leiden and prothrombin 20210GA 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.4 and Thornburg , C et.al.5.
  4. 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.  If additional genetic testing is available and/or recommended, the benefits, limitations, and risks of such tests will be explained.  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.

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Metabolic Genetics

  1. 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.  Although individually rare, inborn errors of metabolism collectively account for approximately 15% of single gene disorders.
  2. 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.)
    • Infants, children, or adults with regression of motor, cognitive or language skills
    • Children and adults with a known or suspected inborn error of metabolism
    • Couples with a family history of inborn errors of metabolism who wish to know their risk of having an affected child
    • Couples who have children that died of sudden infant death syndrome (SIDS) or sudden unexplained death in childhood (SUDC)
  3. What benefit does a metabolic genetic counselor provide to my patients (PCP and/or specialist)? 

    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 role of a metabolic genetic counselor is to assist in the assessment of an inborn error of metabolism, act as an advocate for the patient through the process of the metabolic genetics evaluation, and help him/her understand what a diagnosis of an inborn error of metabolism means for each family member, both personally and medically.  A metabolic genetic counselor obtains a complete family, medical and prenatal/birth history, identifies who in the family is at risk for an inherited inborn error of metabolism and discusses screening and prevention options for those individuals.  The counselor helps explain the testing process, results, and details about the specific diagnosed disease, including its inheritance, treatment, and risk of recurrence. Metabolic genetic counselors will also facilitate referrals to outside resources, such as community agencies and family support groups, and in some cases, they will assist in case management and long- term coordination of care for patients with complex   metabolic conditions.
  4. What evidence is there to recommend or support genetic counseling in metabolic genetics?  (i.e. list Practice Guidelines, Publications, and Policies that recommend and support genetic counseling in this clinical area and we will hyperlink to them on the NSGC website if they're available online or include a PDF document)?


    The following publications and guidelines support the use of genetic counseling:
  5. What do I tell my patient about a referral to metabolic 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)?

    Typically, an appointment in metabolic genetics begins with metabolic genetic counselor asking detailed questions about the prenatal/birth history, family history, and medical history of the patient. 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. A metabolic genetic counselor can also offer support and counseling to address psychosocial issues that may arise when a genetic condition is identified in a family and provide literature and other resources for the family to review. A metabolic genetics visit is the appropriate way to learn if an inborn error of metabolism is contributing to neurological or developmental problems and an excellent way to receive comprehensive care and management for an inborn error of metabolism once a diagnosis is made.

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Neurogenetics

  1. What is neurogenetics?

    Neurogenetics is an area of specialization within medical genetics and neurology that focuses on hereditary neurologic conditions. These conditions include inherited forms of childhood and adult-onset muscular dystrophies, myopathies, neuromuscular, and movement disorders.
  2. Who should I refer to a neurogenetics counselor?

    Patients with suspected or known neurogenetic conditions or with a family history of hereditary neurogenetics condition, including but not limited to:
    • Muscular dystrophies/myopathies: dystrophin-associated, congenital muscular dystrophies, facioscapulohumeral muscular dystrophy, limb girdle weakness, myotonia, oculopharyngeal muscular dystrophy
    • Neuromuscular disorders: peripheral neuropathies, ALS, spinal muscular atrophies
    • Hereditary movement disorders: ataxia, dystonia, spastic paraplegia, Huntington's chorea, Parkinsonism
    • Person with unexplained: elevated CK levels; ptosis; facial weakness; muscle atrophy
  3. What benefit does a neurogenetics counselor provide to my patients (PCP and/or specialist)? 

    Neurogenetic counselors use their unique specialized education in medical genetics, neurology, and counseling to help physicians and their patients translate complex genetic science into practical, decision-making information to ensure the best patient outcomes and highest patient satisfaction.

    A neurogenetics counselor takes a complete family history, identifies who in the family is at risk for an inherited neurogenetics condition and provides information about genetic testing and family planning options those individuals. 

    A neurogenetics counselor also 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 neurologic 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 to have a hereditary neurologic condition.  They can also facilitate referrals to long-term resources such as community agencies, condition-specific support organizations, and other families with the same condition.
  4. What evidence is there to recommend or support genetic counseling in neurogenetics?

    Genetic counseling has been long recognized as an essential component to the care and management to Huntington disease patients and their at risk family members (Bennett RL, et al. Offering Predictive Testing for Huntington Disease in a Medical Genetics Clinic: Practical Applications. Journal of genetic Counseling, 1993 2 (3): 123-137. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. Am J Hum Genet. 1998 May;62(5):1243-7.)  

    As the knowledge of genes involved in neurogenetic has expanded so has the need and expert recommendation of genetic counseling for individuals and families with neurogenetic conditions: Duchenne: Bushby K, et al. DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010 Jan;9(1):77-93; (2) Eur J Neurol. 2010 May 25).

    The neurogenetic conditions have proven to be a genetically complex group of conations that have significant effect on psychological health of patients and families affected with these conditions.  Genetic counseling can also be key to ensuring the accurate and appropriate use and interpretation of genetic tests (Genetic Counseling and Genetic Testing for Alzheimer's Condition: Joint Practice Guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors http://www.nsgc.org/Publications/PracticeGuidelines/tabid/313/Default.aspx )

    International Huntington Association and World Federation of Neurology; Guidelines for the molecular genetic predictive test in Huntington's disease. J Med Genet. 1994;31:555–9. [PubMed: 7966192]

    International Myotonic Dystrophy Consortium. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Available at www.neurology.org . 2000.

    American Society of Human Genetics and American College of Medical Genetics. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Available at www.ashg.org . 1995.

    Anita S.D. Saporta, Stephanie L. Sottile, Lindsey J. Miller, Shawna M.E. Feely, Carly E. Siskind and Michael E. Shy.  Charcot-marie-tooth disease subtypes and genetic testing strategies. Ann Neurol 2011;69:22-33

    G. Evers-Kiebooms, M. Welkenhuysen, E. Claes, M. Decruyenaere and L. Denayer. The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers: implications for multidisciplinary counselling and for genetic education. Social Science & Medicine Volume 51, Issue 6, 15 September 2000, Pages 831-841

    Robins Wahlin TB. To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington's disease. Patient Educ Couns. 2007;65:279–87. [PubMed: 17000074]

    A.C. DudokdeWit, H.J. Duivenvoorden, J. Passchier, M.F. Niermeijer and A. Tibben, Course of distress experienced by persons at risk for an autosomal dominant inherited disorder participating in a predictive testing program: an explorative study—Rotterdam/Leiden Genetics Workgroup, Psychosom Med 60 (1998), pp. 543–549

    C.O. Smith, H.P. Lipe and T.D. Bird, Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders, Arch Neurol 61 (2004), pp. 875–880.
  5. What do I tell my patient about a referral to neurogenetics (what to expect during the appointment, what questions will be asked, what topics will be discussed, how the appointment will be valuable to them)?

    The goal of an appointment with a neurogenetics counselor is to provide information and support to the patient and his or her family members to facilitate understanding of the neurogenetic condition affecting the family.

    An appointment with a neurogenetics counselor will include discussing the patient's medical and family history. The counselor may ask questions about neurologic conditions in the family, neurology evaluations for family members, and symptoms related to hereditary neurologic condition. The counselor may discuss genetic testing options, the pros/cons of genetic testing, and the implication of genetic testing for the patient and family members. The counselor will also identify family members at risk for hereditary neurologic 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.

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Pediatric & Clinical Genetics

  1. What is Pediatric & Clinical Genetics ?

    Pediatric and Clinical Genetics is a medical specialty for children and adults.  It involves the evaluation of patients for dysmorphic features, metabolic conditions, and heritable syndromes.
  2. Whom should I refer to a genetic counselor specializing in Pediatric & Clinical Genetics?

    A referral is appropriate for any individual with (but not limited to) the following:
    • Abnormal genetic testing results and/or abnormal newborn screening results
    • Birth defects
    • Neurologic and/or neuromuscular disorders
    • Developmental delay/Intellectual disability/Mental retardation
    • Autism spectrum disorders
    • Failure to Thrive, Short Stature or Overgrowth
    • Skeletal/Bone dysplasia
    • Vision loss/Hearing loss
    • Inherited blood disorders
    • Inborn errors of metabolism
    • Individuals with dysmorphic features
    • Skin/dental disorders with a suspected genetic etiology
    • Certain types of pediatric cancer
    • Seizures
  3. What benefits does a genetic counselor specializing in Pediatric & Clinical Genetics provide to my patients?

    Genetic counselors who specialize in Pediatric & Clinical Genetics are active members of the healthcare team involved in evaluating your patient. Genetic counselors often work with families throughout the referral and diagnostic process by assisting in the triaging of individuals referred for a genetics evaluation, discussing the utility of and basis for the referral with the family/patient, participating in the diagnostic evaluation and determination of appropriate testing options, and coordinating the patient's ongoing care by facilitating communication with both the patient's primary care provider and other medical specialists that the patient sees.

    Genetic counselors specialize in translating complex genetic information into understandable terms for both patients and their health care providers. Genetic counselors work closely with patients and families in order to provide comprehensive information about the diagnosis or possible diagnoses, medical and anticipatory guidance, and when necessary, risk assessments for the patient and other family members. Genetic counselors also play a critical role in assisting with the transition of patients from pediatric to adult care. Most importantly, genetic counselors serve as patient advocates and represent a valuable resource for other providers involved in the patient's care.
  4. What do I tell my patients about a referral to Pediatric & Clinical Genetics?

    During the genetics evaluation, the genetic counselor will meet with the family to obtain a comprehensive history, usually including a prenatal, medical, family, and developmental history.  Following a physical examination, in coordination with the medical geneticist the genetic counselor will discuss the possible diagnosis(es) and explain whether there are any recommended testing options. Genetic counselors specialize is assisting families/patients to make an autonomous decision about genetic testing by helping them to consider the potential testing implications for both for the patient and at-risk family members. Genetic counselors can help identify resources to assist the family in dealing with a new diagnosis, or perhaps coming to grips with the absence of a definitive diagnosis at that time.
  5. What evidence is there to recommend or support genetic counseling in Pediatric & Clinical Genetics?

    There are several practice guidelines published by the American College of Medical Genetics (ACMG) and the American Society of Human Genetics (ASHG) which support referral for pediatric and adult genetic counseling services.  See list below for some relevant examples.

    ACMG

  • Genetic Referral
    Pletcher BA, Toriello HV, Noblin SJ, Seaver LH, Driscoll DA, Bennett RL, Gross SJ. Indications for Genetic Referral: A Guide for Healthcare Providers(2007) Genet Med, 9:6:385-389.
  • Genetic Testing
    Manning M and Hudgins L. Array-Based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities. (2010) Genet Med, 12:11:742-745.
    • Shaffer LG; Merican College of Medical Genetics Professional Practice and Guidelines Committee. American College of Medical Genetics Guideline on the Cytogenetic Evaluation of the Individual with Developmental Delay or Mental Retardation.  (2005) Genet Med, 7:9:650-654.
    • Cystic Fibrosis
      Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. Cystic Fibrosis Population Carrier Screening: 2004 Revision of American College of Medical Genetics Mutation Panel. (2004) Genet Med, 6:5:387-391.
    • Factor V LeidenGrody WW, Griffin JH, Taylor AK, Korf BR, Heit JA. American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing. (2001) Genet Med, 3:2:139-148. Reaffirmed 2006.
    • Fragile X syndromeSherman S, Pletcher BA, Driscoll DA. Fragile X Syndrome: Diagnostic and Carrier Testing (2005) Genet Med, 7:8:584-587.
    • Genetic Testing In Children and Adolescents
      The American Society of Human Genetics Board of Directors and the American College of Medical Genetics (ACMG) Board of Directors'  Report. Points to Consider: Ethical Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents. (1995) Am J Hum Genet, 57:1233-1241.
    • Hearing Loss
      ACMG Statement. Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss ACMG Reaffirmed 2005
    • Hemihyperplasia
      Clericuzio CL, Martin RA. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. (2009) Genet Med, 11:220-222.
    • Autism
      Clinical Genetics Evaluation in Identifying the Etiology of Autism Spectrum Disorders. . ACMG (2008) Genet Med, 10:4:301-305.
    • Newborn Screening
      Newborn Screening ACT Sheets and Confirmatory Algorithms. ACMG (2006) Funded in part through MCHB/HRSA/HHS grant #U22MC03957.
    • Osteogenesis Imperfecta
      Byers PH, Krakow D, Nunes ME, Pepin M. Genetic Evaluation of Suspected Osteogenesis Imperfecta (OI). (2006) Genet Med, 8:6:383-388.
    • Pompe Disease
      Ishnani PS, Steiner RD, Bali D, Berger , Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Macey J, Marsden D, Martins AM, Millington DS, Nicoloino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Pompe Disease Diagnosis and Management Guideline.  (2006) Genet Med, 8:5:267-288.
    • Prader-Willi and Angelman Syndrome
      Diagnostic Testing for Prader-Willi and Angelman Syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee. (1996) Am J Hum Genet, 58:1085-1088. Reaffirmed 2005.
    • Short Stature
      Seaver LH, Irons M; American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee. ACMG practice guideline: Genetic evaluation of short stature . (2009) Genet Med, 11:465-470.
    • Uniparental Disomy
      Shaffer LG, Agan N, Goldber JD, Ledbetter DH, Longshore JW, Cassidy SB. American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy.  Genet Med, 3(3):206-211.

                            NSGC

                            1. Cancer Risk - Under Revision
                              Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skzynia C, Farrell C, Callif-Daley F, Vockley CW. (2004) Genetic cancer risk assessment and counseling: Recommendations of the National Society of Genetic Counselors. J Genet Couns,13(2):83-114.
                              http://www.springerlink.com/link.asp?id=v053u7467071k047
                            2. Consanguinity - Reaffirmed September 2009
                              Bennett RL, Motulsky AG, Bittles A, Hudgins L, Uhrich S, Doyle DL, Silvey K, Scott CR, Cheng E, McGillivray B, et al. (2002) Genetic counseling and screening of consanguineous couples and their offspring: Recommendations of the National Society of Genetic Counselors. J Genet Couns, 11(2):97-119.
                              http://www.springerlink.com/link.asp?id=uxwm5qr18j5lgrdt
                            3. Cystic Fibrosis – Under Revision
                              Langfelder-Schwind E, Kloza E, Sugarman E, Pettersen B, Brown T, Jensen K, Marcus S, Redman J; NSGC Subcommittee on Cystic Fibrosis Carrier Testing (2005) Cystic fibrosis prenatal screening in genetic counseling practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns,14(1):1-15.
                            4. href="http://www.springerlink.com/link.asp?id=g3813123744716h4Fabry">http://www.springerlink.com/link.asp?id=g3813123744716h4
                            5. Fabry Disease - Under Revision
                              Bennett RL, Hart KA, O'Rourke E, Barranger JA, Johnson J, MacDermot KD, Pastores GM, Steiner RD, Thadhani R. (2002) Fabry disease in genetic counseling practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns, 11(2):121-146.
                              http://www.springerlink.com/link.asp?id=pd2ejhrnrwtxac20
                            6. Fragile X Syndrome - Under Revision
                              McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, & Pettersen BJ (2005) Genetic counseling for Fragile X syndrome: Updated recommendations of the National Society of Genetic Counselors. J Genet Couns, 14(4):249-270.
                              http://www.springerlink.com/link.asp?id=r54356r13r0740u7
                            7. Neurofibromatosis Type 1- Reaffirmed October 2009
                              Radtke HB, Sebold CD, Allison C, Larsen Haidle J, Schneider G. (2007) Neurofibromatosis Type 1 in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns, 16(4):387-407.
                              http://www.springerlink.com/link.asp?id=0365g21w57351w87

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                            Personalized Medicine Genetics

                            1. What is Personalized Medicine? 

                              The medical community's definition of personalized medicine continues to evolve.  Personalized Medicine (PM), also called genomic medicine by some, involves the capacity to combine molecular-based analyses, medical and family history, as well as behavioral and environmental influences, to identify a person's risk for common, complex diseases and tailor their care to improve health.  It involves education and promotion of a more active role for the patient in his or her own health care. 
                            2. Whom should I refer to a Personalized Medicine genetic counselor?

                              Individuals who have had genomic based tests, including but not limited to:
                              • SNP-based risk assessments for disease susceptibility testing, Chromosome microarray, oligoarray, or SNP array as a screen for a developmental condition,
                              • Whole exome or whole genome sequencing,
                              • Pharmacogenomic testing, and/or  
                            3. Those who have questions about personalized medicine

                              Many genetic counselors provide genetic services related to genomic and personalized medicine.  Some genetic counselors are subspecialized in a particular area of personalized medicine, such as cardiovascular disease, while others provide genetic counseling for a range of conditions.
                            4. What benefit does a PM genetic counselor provide to my patients? 

                              The PM genetic counselor can provide comprehensive risk assessment and genetic counseling for rare and common complex diseases.  PM genetic counselors provide support, education, consultation and guidance regarding currently available genetic and genomic based analyses for the patient, the family and the Primary Care Physician or other Health Care Provider.
                            5. What do I tell my patient about a referral to personalized medicine genetics?

                              A personalized medicine genetic counseling appointment is very similar to genetic counseling provided in other areas of medicine.  The genetic counselor will collect a complete family history, providing assessment and counseling for common complex diseases such as cancer, heart disease and psychiatric disorders in the context of genetic, lifestyle, environmental and behavioral risk factors.  The genetic counselor will also discuss any issues identified in the personal and family medical histories which may indicate rare genetic diseases. 

                              The genetic counselor will provide education about and facilitate the process of genomic testing based on the patient's motivations for risk assessment for particular diseases.  The genetic counselor will also provide risk information in general, with personalized assessment of health risks, health screening and health behaviors. The genetic counselor may discuss genetic testing options, the pros and cons of genetic testing, and the implication of genetic testing for the patient and family members.

                              A genetic counselor can also offer support and counseling to address psychosocial issues that may arise when a genetic condition is identified in a family, or when a client is found to have an increased risk for a particular disease through genomic testing.  Given the current limitations of genomic based analyses and interpretation, any conflicts between genomic based risks and family history will be discussed, as well as laying the groundwork for updates regarding new risks and new genomic based findings that will develop from ongoing research. 

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                            Prenatal Genetics

                            1. What is prenatal genetics?

                              Prenatal genetics is the genetics specialty that focuses on potential risks to a current or future pregnancy, including risks for genetic conditions or birth defects.

                              Prenatal genetic counselors provide information about the risks of chromosomes abnormalities, birth defects or other genetic conditions to individuals, couples or families.  Genetic counselors help facilitate the decision-making process, allowing patients to make informed choices about prenatal screening and testing options.  The genetic counselor helps coordinate testing and communicates results to the patient.  Genetic counselors also provide families with resources, educational materials, and short-term psychosocial support. 

                              Prenatal Cell-Free DNA Testing Q&A for healthcare providers
                              Prenatal Cell-Free DNA Testing Q&A for patients
                              Abnormal Prenatal Cell-Free Testing Results Fact Sheet  for healthcare providers
                              Fetal Therapy Centers Organized by State
                            2. Whom should I refer to a prenatal genetic counselor?

                              There are many reasons to refer a patient for prenatal genetic counseling including:
                              • Women or couples interested in screening or diagnostic testing for a current or future pregnancy
                              • Women who will be 35 years or older at the time of delivery with a singleton gestation
                              • Women who will be 33 or older at the time of delivery with a multiple gestation
                              • Women who have had abnormal results from prenatal screening tests, such as ultrasound or blood work
                              • Women who have had abnormal results from diagnostic testing, such as CVS or amniocentesis
                              • Individuals of ethnic groups in which particular inherited diseases are more common, including African-American, French-Canadian, Jewish, Mediterranean or Asian backgrounds
                              • Women exposed to certain medications, drugs, significant radiation, and/or particular infections during pregnancy
                              • Couples with a history of multiple miscarriages or infertility
                              • Individuals who are known carriers of a genetic condition
                              • Couples in which either parent has a personal diagnosis, previous child, or family history of birth defect, genetic disorder or mental retardation
                              • Families with known consanguinity
                            3. What benefit does a prenatal genetic counselor provide to my patients (PCP and/or specialist)?  

                              The genetic counseling process allows patients the opportunity to understand potential genetic risks, enabling them to make informed decisions for a current or future pregnancy in a supportive and non-directive environment.  This process helps patients make the best decision for themselves in the context of their personal and cultural beliefs.  

                              Prenatal genetic counseling involves providing information about the chromosome abnormality, birth defect or genetic condition of concern; providing information about available testing options; discussing the factors involved in making decisions about carrier or prenatal testing; and helping the patient adjust emotionally to having or being at risk to have a baby with a birth defect or genetic disease. 

                              When a pregnancy is diagnosed with a birth defect or genetic condition, a prenatal genetic counselor can help the couple understand the medical information surrounding the diagnosis, including potential causes and risks of recurrence.  The counselor will review available testing options and help families understand what to expect during the pregnancy and after delivery.  Genetic counselors discuss options available to the family including continuation of the pregnancy with expectant management, pregnancy termination, or adoption.  The counselor is also trained to provide psychosocial support to families during this emotional time.

                              The counselor's genetic expertise enables him or her to arrange and coordinate appropriate genetic testing, as well as communicate results to patient and physicians.  When indicated, genetic counselors are able to facilitate appropriate referrals to other specialists and offer patients many resources, such as education materials and connections to support groups and other families who have experienced similar situations.
                            4. What evidence is there to recommend or support genetic counseling in prenatal genetics? 

                              A number of expert opinions  recommend prenatal genetic counseling including the American College of Medical Genetics (Practice Guidelines June 2007, January 2008, November 2008), the Society of Maternal-Fetal Medicine (Simpson LL 2009, Reddy UM et al 2006, Malone FD 2003) and the American College of Obstretricians and Gynecologists (Practice Bulleintin No. 77, January 2007).
                            5. What do I tell my patient about a referral to prenatal genetic counselor (what to expect during the appointment, what questions will be asked, what topics will be discussed, how the appointment will be valuable to them)?

                              An appointment with a prenatal genetic counselor usually includes the following:
                              • Review of the patient's medical and pregnancy history
                              • Review of the patient's and her partner's family histories
                              • Discussion of identified risks, including
                              • Description of the features and characteristics of the condition(s) for which there may be an increased risk
                              • Review of the results of any relevant testing that has already been performed
                              • Quantification of the risk for the current or future pregnancy
                              • Identification of other at-risk family members 
                              • Discussion of testing options, which may involve screening tests (carrier screening, serum screening, ultrasound) or diagnostic tests (chorionic villus sampling, amniocentesis), including
                              • Discussion of potential results and their implications
                              • Discussion of pregnancy options, including continuation, adoption, and termination of the pregnancy
                              • Description and information about non-invasive prenatal testing

                            The ultimate goal of a prenatal genetic counseling session is to address the patient's individual concerns and answer any questions the patient may have.  During the process, the prenatal genetic counselor can also offer support and counseling to address psychosocial issues that may arise when the results of carrier or prenatal testing are abnormal, such as feelings of guilt, blame, anxiety, and grief/loss of a normal pregnancy when the fetus is found to have an abnormality.  After the appointment, the counselor will send a letter summarizing what was discussed during the session to the patient and/or appropriate physicians.

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