Genetic+Counseling+in+Family+Planning

Megan McKenna **Genetic Counseling in Family Planning**

**Genetic counseling** is a service which assists individuals and families to use scientific information of genes and biology to make practical decisions. In relation to family planning, genetic counseling is used to assess the risks and/or likelihood of certain genetic syndromes or conditions, birth defects, or abnormal pregnancies based on the genetic make-up of two parents (March of Dimes, 2010). **Genetic Counseling Providers** Genetic counseling is provided by a variety of medical professionals. According to the National Human Genome Research Institute (NHGRI), professionals who provide genetic counseling have specialized education and experience with genetics and medical counseling. Geneticists, genetic counselors, and genetic nurses, which may be found through physician referrals or through the National Society of Genetic Counselors, may all take part in administering genetic counseling (NHGRI, 2010). Genetic counselors in particular, the individuals who participate most directly in the communication about genetics with clients, must hold a master’s degree from a program accredited by the American Board of Genetic Counseling and pass a board-certification exam to practice (Norrgard, 2008). Genetic counselors often specialize in a certain type of genetic counseling. In the case of family planning, genetic counselors are usually specialists in prenatal counseling. The ability for genetic counselors to communicate effectively with their clients and patients is of great importance due to the sensitive nature of the topics at hand. As explained by researchers Rantanen, Pöntinen, Nippert, Sequeiros, and Kääriäinen, “ Genetic counseling is, thus, an important stage where genetic information is translated into everyday language…” (2009, p.301). Genetic counselors must explain complex chromosomal processes in simple terms for clients to understand while being receptive to the many emotions and questions that may result from increased information. According to researcher Nancy Steinberg Warren (2010), family and genetic counselors need to not only worry about their own patient-provider communication, but also assist couples and families in communicating. She suggests the following seven aspects to improve communication between partners, families, and genetic counselors: validation, responsibility, precision, rationale, sense of humor, asking questions, and creating a climate of safety (Warren, 2010). **Reasons for Genetic Counseling in Family Planning** There are numerous reasons why couples or families would consider genetic testing or counseling when planning to conceive. According to Norrgard (2008), individuals in the following situations often seek testing and counseling from a licensed genetic counselor:
 * 1) A person knows of a genetic disease in the family.
 * 2) A couple has given birth to a child with a genetic disease, birth defect, or chromosomal abnormality.
 * 3) A couple has a child who is considered mentally retarded or has a close relative who is considered mentally retarded.
 * 4) An older woman becomes pregnant or wants to become pregnant. Although there is disagreement about what age is considered “older,” many experts suggest women who are 35 or older should seek genetic counseling.
 * 5) A couple is closely related genetically (e.g., first cousins).
 * 6) A couple has experienced difficulties achieving successful pregnancies (e.g. stillbirth, multiple miscarriages).
 * 7) A pregnant woman is concerned about exposure to an environmental substance that causes birth defects.
 * 8) A couple needs assistance in interpreting the results of a prenatal or other genetic test.
 * 9) Both parents are known carriers for a recessive genetic disease.

For many couples and families in the situations cited above, genetic counselors provide scientific information to determine the risks of complications, genetic conditions, and birth defects in infants both before and after conception. Genetic counselors run genetic testing, explain results, answer questions, and assist families in making informed decisions. Making the decision to undergo genetic testing involves thorough and personal conversation between the two adults or family members involved. Author Heidi Murkoff of the acclaimed //What to Expect// series, explains the importance of communicating genetic risks and concerns with a partner before making the decision to conceive (Murkoff, 2011). By explaining family histories of genetic conditions, couples can together decide how much information they want to receive from a genetic counselor before conceiving. Though difficult, these conversations can lead to healthier and more successful pregnancies. **Genetic Disorders** Humans carry 46 chromosomes, 22 pairs of autosomes and one pair of sex chromosomes (Dugdale, 2009). When conception occurs, one chromosome from each parent’s pair of chromosomes forms a zygote, the first stage of pregnancy. These chromosomes determine the sex of the unborn child among many other characteristics. Problems with these chromosomes are what cause genetic disorders. A genetic disorder is a condition caused by a disturbance in the sequence of the DNA of an individual. According to the NHGRI (2010), genetic disorders can be separated into three definitive categories. These categories are monogenic disorders, multifactorial inheritance disorders, and chromosome disorders. Monogenic disorders are caused by a mutation in a single gene, in either one or both inherited chromosomes. Monogenic disorders can be either dominant or recessive. Dominant conditions are carried on just one of the two inherited chromosomes while recessive conditions are carried on both of the inherited chromosomes. This means that dominant conditions have a 50% chance of occurring in offspring while recessive conditions have a 25% chance of occurring in offspring. Examples of monogenic disorders include hemophilia, sickle-cell disease, and cystic fibrosis. The second category explained by the NHGRI (2010) is multifactorial inheritance disorders. Multifactorial inheritance disorders are caused by combinations of gene variations with influence from the environment. Examples of these disorders include diabetes and some cancers. The third category from the NHGRI (2010) is chromosome disorders. Chromosome disorders are caused by an abnormal number of chromosomes in an individual, such as one too many or one less than typical. An example of a chromosome disorder is Down syndrome. **Genetic Testing** Genetic tests look at a person’s genes to determine if there are any abnormalities that indicate that they have or carry a genetic disorder. According to the NHGRI (2010), three types of tests can be administered: gene tests, chromosomal tests, and biochemical tests. Gene tests look at DNA and RNA. Chromosomal tests look at structure, number, and arrangement of chromosomes. Biochemical tests check for levels of certain proteins or enzymes. Blood, saliva, and other bodily fluids and tissues may be used for these tests to determine risk factors and genetic makeup that could indicate or lead to genetic conditions. These tests can provide a diagnosis, help estimate probability of disease, determine if someone is a carrier for a condition, screen fetuses or newborns, and assist in selecting the best medical treatments for an individual (NHGRI, 2010). 

**Other Considerations** Some ethical issues have been raised regarding genetic testing, especially when the results provide partners or families with the option to avoid genetic combinations to eradicate a specific condition. According to Ronald M. Green, author of //Babies by Design//, gene therapies that change the natural occurrence of disorders raise many questions. “…could altering harmful genes in the population have bad consequences for the human species as a whole?” (Green, 2007, p. 96). Concerns such as these have been discussed, especially in circumstances where partners use genetics to choose their child’s sex and physical characteristics or where elective termination after disease determination in a fetus is involved. **References** Find Me a Cure. (2009). //Amniocentesis.// Retrieved from http://findmeacure.com/2009/05/27/ amniocentesis/ Genetics Home Reference. (2011). //How many chromosomes do people have?// Retrieved from http://ghr.nlm.nih.gov/handbook/basics/howmanychromosomes. Green, R. M. (2007). //Babies by design.// New Haven and London: Yale University Press. March of Dimes Foundation. (2010). //Trying to get pregnant: Genetic counseling//. Retrieved from http://www.marchofdimes.com/Pregnancy/trying_geneticcounseling.html Murkoff, H. (2011). //Do you need genetic testing?// Retrieved from http://www.whattoexpect.com /preconception/health-and-wellness/checklists-and-checkups/genetic-testing.aspx National Human Genome Research Institute. (2010). //Frequently asked questions about genetic counseling.// Retrieved from http://www.genome.gov/19016905 <span style="font-family: "Times New Roman","serif"; font-size: 12pt; line-height: 200%;">Norrgard, K. (2008) <span style="font-family: "Times New Roman","serif"; font-size: 12pt; line-height: 200%;"> Genetic counseling: Genetic testing, family history, and psychosocial evaluation. //Nature Education// // 1 // (1). Retrieved from http://www.nature.com/scitable/ topicpage/genetic-counseling-genetic-testing-family-history-and-658 <span style="font-family: "Times New Roman","serif"; font-size: 12pt; line-height: 200%;">Rantanen, E., Pöntinen, S., Nippert, I., Sequeiros, J., & Kääriäinen, H. (2009). <span style="color: #231f20; font-family: "Times New Roman","serif"; font-size: 12pt; line-height: 200%;">Expertise, empathy and ethical awareness: Ideals of genetic counseling based on framing of genetic information in international guidelines. //New Genetics and Society, 28//(4). Retrieved from http://content.ebscohost.com.proxy2.library.illinois.edu/pdf23_24/pdf/2009/56I/01Dec09/45287726.pdf?T=P&P=AN&K=45287726&S=R&D=aph&EbscoContent=dGJyMNHr7ESep644v%2BbwOLCmr0meqK5Ssq%2B4SrSWxWXS&ContentCustomer=dGJyMPGut1C3rLZNuePfgeyx44Dt6fIA <span style="color: #231f20; font-family: "Times New Roman","serif"; font-size: 12pt; line-height: 200%;">U.S. National Library of Medicine. (2011). //Chromosome//. Retrieved from http://www.nlm.nih.gov/medlineplus/ency/article/002327.htm <span style="color: #231f20; font-family: "Times New Roman","serif"; font-size: 12pt; line-height: 200%;">Warren, N.S. (2010). //Psychosocial assessment, support and counseling//. Retrieved from http://geneticcounselingtoolkit.com/cases/psychosocial_assesssment/pa10.htm