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Learning you do or don’t have a genetic variant can often provide relief from the “fear of the unknown.” Think about the stress that comes from an online search of a simple symptom and the litany of diseases that appear as a result. It’s worrisome for everyone.
For some types of cancer and other diseases, genetic testing can reveal that you are not predisposed to develop that disease, which could reduce your stress.
If you don’t already have a disease, knowing you have a genetic variant for a particular disease could lead you to make positive lifestyle/behavioral changes to help lower the risk of getting that disease.
This can be useful for a disease such as Alzheimer’s. If you know you are more at risk for developing Alzheimer’s due to a genetic variant, you can change your lifestyle to try to lower your risk ahead of time.
If you already have a disease, understanding whether you have a genetic variant could inform treatment protocols.
For example, women with breast cancer often struggle with whether they should undergo chemotherapy. A 2018 study published in the New England Journal of Medicine found “that many women with early-stage invasive breast cancer could safely forgo chemotherapy, if they score in the mid-range or lower for risk that their cancer will recur, as measured by a commonly used genomic test.”
The right genetic test for the right individual might provide information that would allow a doctor to recommend a different type of treatment. This is where genetic tests can be highly valuable.
Not only is recombination needed for homologous pairing during meiosis, but recombination has at least two additional benefits for sexual species. It makes new combinations of alleles along chromosomes, and it restricts the effects of mutations largely to the region around a gene, not the whole chromosome.
Since each chromosome undergoes at least one recombination event during meiosis, new combinations of alleles are generated. The arrangement of alleles inherited from each parent are not preserved, but rather the new germ cells carry chromosomes with new combinations of alleles of the genes (Figure 8.4). This remixing of combinations of alleles is a rich source of diversity in a population.
Over time, recombination will separate alleles at one locus from alleles at a linked locus. A chromosome through generations is not fixed, but rather it is “fluid,” having many different combinations of alleles. This allows nonfunctional (less functional) alleles to be cleared from a population. If recombination did not occur, then one deleterious mutant allele would cause an entire chromosome to be eliminated from the population. However, with recombination, the mutant allele can be separated from the other genes on that chromosome. Then negative selection can remove defective alleles of a gene from a population while affecting the frequency of alleles only of genes in tight linkage to the mutant gene. Conversely, the rare beneficial alleles of genes can be tested in a population without being irreversibly linked to any potentially deleterious mutant alleles of nearby genes. This keeps the effective target size for mutation close to that of a gene, not the whole chromosome.
All patients who are looking to conceive should be offered genetic testing.
A consultation with a genetic counselor can identify whether the couple is at an increased risk for having a baby with a genetic disease.
Individuals with strong family histories of inherited diseases or specific cancers should also seek a consultation with a genetic counselor to see if there is a genetic cause.
It offers insight: With genetic testing, “we’re targeting the coding part of the gene that is relevant to your particular disease,” Aatre says. That, she notes, involves reading a DNA sequence from start to finish to see if there are any “interruptions/disruptions” — mutations associated with the disease in question — that stop the gene from making normal proteins.
A genetic test might be able to tell you for certain about you or your child’s genetic makeup. For some people this relief from uncertainty is very important, even if the news is bad. If the news is good, such as a mild prognosis, it can mean a tremendous sense of relief.
A genetic test can help diagnose a genetic condition. When someone has an accurate diagnosis, the appropriate treatment can be given, and you have a better chance of finding support. If a genetic test tells you that you have an increased risk of developing a condition later in life (such as breast cancer) you might be able to go for more regular check-ups, or take other measures to keep the risk to a minimum.
The results of a genetic test can provide useful information when planning for future children. If you know you and your partner are at high risk of having a child with a genetic condition, it may be possible to test the unborn child during pregnancy to see if it is affected. Knowing you have an increased risk of having a child with a genetic condition might give you the opportunity to be more mentally and practically prepared.
Because genetic conditions often run in families, information about your genetic makeup might be useful to other family members. If family members are aware that a genetic condition runs in the family, it might prevent them from being misdiagnosed. This information might also be of use to them when they are planning children.
Children inherit pairs of genes from their parents. A child gets one set of genes from the father and one set from the mother. These genes can match up in many ways to make different combinations. This is why many family members look a lot alike and others don’t look like each other at all. Genes can also increase the risk in a family for getting certain health conditions.
Families also share habits, diet, and environment. These influence how healthy we are later in life.
You share a lot with your family—including what can make you sick.
Every person is unique. Part of what makes you unique is your genes. Genes are the instructions inside each of your cells. They control how you look and how your body works. Since everyone has slightly different genes, everyone has a different set of instructions. Genes are one reason why you are unique!
Genetics helps to explain:
Taking time to learn about health and diseases that run in your family is worth it! It will help you understand your own health and make healthy choices.